Journal list menu

• 
  Issue

  American Journal of Medical Genetics Part A: Volume 179, Issue 12

  Pages: i, 2319-2531

  December 2019

Previous Issue|Next Issue

Export Citation(s)Download PDF(s)

Export Citations

Format

Plain Text

RIS (ProCite, Reference Manager)

EndNote

BibTex

Medlars

RefWorks

Type of import

Citation file or direct import

Indirect import or copy/paste

Cancel

Next

< Go back

Citation HelpExport

Download PDFs

Cancel

Item limit reached

Download (.zip)

COVER IMAGE

Free Access

free

Cover Image, Volume 179A, Number 12, December 2019

• Page: i
• First Published: 10 November 2019

Cover Image © Andrey Prokhorov/iStockphoto.

• Abstract
• PDF
• Request permissions

ISSUE INFORMATION

Free Access

free

Table of Contents, Volume 179A, Number 12, December 2019

• Pages: 2319-2322
• First Published: 10 November 2019

• First Page
• PDF
• Request permissions

Free Access

free

Publication schedule for 2019

• Page: 2323
• First Published: 10 November 2019

• PDF
• Request permissions

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

Full Access

full

The Promise of Pharmacogenomics: Genetic variation can be used to individualize drug therapy, and is an integral component of genomic medicine

• Pages: 2324-2325
• First Published: 10 November 2019

• Full text
• PDF
• References
• Request permissions

Full Access

full

New Gene Editing Research Hopes to Eliminate Genetically Related Male Infertility

• Pages: 2325-2326
• First Published: 10 November 2019

• Full text
• PDF
• References
• Request permissions

Full Access

full

In This Issue

• Page: 2327
• First Published: 10 November 2019

• Full text
• PDF
• Request permissions

INVITED COMMENT

Full Access

full

Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse

Natasha Shur,  Tanya Hinds,  Eglal Shalaby-Rana,  Brad Tinkle,  Lori Frasier,  Dorothy Bulas,  Marshall Summar,  Allison Jackson, 

• Pages: 2329-2332
• First Published: 29 September 2019

• First Page
• Full text
• PDF
• References
• Request permissions

CORRESPONDENCE

Full Access

full

Broken bones and irresponsible testimony?

Colin R. Paterson, 

• Pages: 2333-2334
• First Published: 12 September 2019

• Full text
• PDF
• References
• Request permissions

Full Access

full

Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule

Natasha Shur,  Brad Tinkle,  Marshall Summar,  Lori Frasier,  Eglal Shalaby-Rana,  Bruce McIntosh, 

• Pages: 2335-2337
• First Published: 12 September 2019

• Full text
• PDF
• References
• Request permissions

ORIGINAL ARTICLES

Full Access

full

Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages

Elizabeth McPherson, 

• Pages: 2338-2342
• First Published: 11 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Duplication 2p16 is associated with perisylvian polymicrogyria

Dina Amrom,  Annapurna Poduri,  Jennifer S. Goldman,  Bernard Dan3,  Nicolas Deconinck3,  Bruno Pichon,  Javad Nadaf,  Frederick Andermann,  Eva Andermann,  Christopher A. Walsh,  William B. Dobyns, 

• Pages: 2343-2356
• First Published: 29 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

Valerie J. Castelluccio,  Francesco Vetrini,  Ty Lynnes,  Julie Jones,  Lynda Holloway,  Alyce Belonis,  Amy M. Breman,  Brett H. Graham,  Katherine Sapp,  Theodore Wilson,  Charles E. Schwartz,  Victoria M. Pratt,  David D. Weaver, 

• Pages: 2357-2364
• First Published: 12 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

Linda Mouthon,  Tiffany Busa,  Florence Bretelle,  Houda Karmous-Benailly,  Chantal Missirian,  Nicole Philip,  Sabine Sigaudy, 

• Pages: 2365-2373
• First Published: 11 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome)

Selena L. Tran,  Carole A. Samango-Sprouse,  Teresa Sadeghin,  Sherida Powell,  Andrea L. Gropman, 

• Pages: 2374-2381
• First Published: 02 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Trisomy 13 and 18—Prevalence and mortality—A multi-registry population based analysis

Nitin Goel,  Joan K. Morris,  David Tucker,  Hermien E. K. de Walle,  Marian K. Bakker,  Vijaya Kancherla,  Lisa Marengo,  Mark A. Canfield,  Karin Kallen,  Nathalie Lelong,  Jorge L. Camelo,  Erin B. Stallings,  Abbey M. Jones,  Amy Nance,  My-Phuong Huynh,  Maria-Luisa Martínez-Fernández,  Antonin Sipek,  Anna Pierini,  Wendy N. Nembhard,  Dorit Goetz,  Anke Rissmann,  Boris Groisman,  Leonora Luna-Muñoz,  Elena Szabova,  Serhiy Lapchenko,  Ignacio Zarante,  Paula Hurtado-Villa,  Laura E. Martinez,  Giovanna Tagliabue,  Danielle Landau,  Miriam Gatt,  Saeed Dastgiri,  Margery Morgan, 

• Pages: 2382-2392
• First Published: 30 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert R. Mortier,  Daniel H. Cohn,  Valerie Cormier-Daire,  Christine Hall,  Deborah Krakow,  Stefan Mundlos,  Gen Nishimura,  Stephen Robertson,  Luca Sangiorgi,  Ravi Savarirayan,  David Sillence,  Andrea Superti-Furga,  Sheila Unger,  Matthew L. Warman, 

• Pages: 2393-2419
• First Published: 21 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome

Sarah B. Clauss,  Samuel S. Gidding,  Claire I. Cochrane,  Rachel Walega,  Babette S. Zemel,  Mary E. Pipan,  Sheela N. Magge,  Andrea Kelly,  Meryl S. Cohen, 

• Pages: 2420-2424
• First Published: 06 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Open Access

oa

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

David Viskochil,  Lorne A. Clarke,  Luisa Bay,  Hillary Keenan,  Joseph Muenzer,  Nathalie Guffon, 

• Pages: 2425-2432
• First Published: 22 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

Alana M. McNeill,  Rebekah L. Hudock,  Allison M. H. Foy,  Ryan Shanley,  Margaret Semrud-Clikeman,  Mary Ella Pierpont,  Susan A. Berry,  Katherine Sommer,  Christopher L. Moertel,  Elizabeth I. Pierpont, 

• Pages: 2433-2446
• First Published: 30 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

CLINICAL REPORTS

Open Access

oa

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Carolina Courage,  Christopher B. Jackson,  Marta Owczarek-Lipska,  Aleksander Jamsheer,  Anna Sowińska-Seidler,  Małgorzata Piotrowicz,  Lucjusz Jakubowski,  Fanny Dallèves,  Erik Riesch,  John Neidhardt,  Johannes R. Lemke, 

• Pages: 2447-2453
• First Published: 11 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis

Lina Berkun,  Mordechai Slae,  Hagar Mor-Shaked,  Benjamin Koplewitz,  Smadar Eventov-Friedman,  Tamar Harel, 

• Pages: 2454-2458
• First Published: 09 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Nishitha R. Pillai,  Delia Yubero,  Brian J. Shayota,  Alfonso Oyarzábal,  Rajarshi Ghosh,  Qin Sun,  Mahshid S. Azamian,  Cesar Arjona,  Núria Brandi,  Francesc Palau,  Seema R. Lalani,  Rafael Artuch,  Angeles García-Cazorla,  Daryl A. Scott, 

• Pages: 2459-2468
• First Published: 13 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions

Lihi Atzmony,  Theodore D. Zaki,  Richard J. Antaya,  Keith A. Choate, 

• Pages: 2469-2473
• First Published: 30 September 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes

Ozlem Akgun-Dogan,  Pelin O. Simsek-Kiper,  Ekim Taskiran,  Christina Lissewski,  Julia Brinkmann,  Denny Schanze,  Rahşan Göçmen,  Deniz Cagdas,  Yelda Bilginer,  Gülen E. Utine,  Martin Zenker,  Seza Ozen,  İlhan Tezcan,  Mehmet Alikasifoglu,  Koray Boduroğlu, 

• Pages: 2474-2480
• First Published: 04 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB)

Maria Arvio,  Laura Määttänen,  Maria Haanpää,  Jaana Lähdetie, 

• Pages: 2481-2485
• First Published: 03 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy

Daron Vandeleur,  Constance V. Chen,  Eric J. Huang,  Andrew J. Connolly,  Henry Sanchez,  Anita J. Moon-Grady, 

• Pages: 2486-2489
• First Published: 06 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene

Katherine R. Forster,  Jody E. Hooper,  Karin J. Blakemore,  Ahmet A. Baschat,  Julie Hoover-Fong, 

• Pages: 2490-2493
• First Published: 06 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum

Ilse Meerschaut,  Aude Beyens,  Wouter Steyaert,  Riet De Rycke,  Katrien Bonte,  Tine De Backer,  Sandra Janssens,  Joseph Panzer,  Frank Plasschaert,  Daniël De Wolf,  Bert Callewaert, 

• Pages: 2494-2499
• First Published: 09 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Grange syndrome due to homozygous YY1AP1 missense rare variants

Isabella V. Ciuffetelli Alamo,  Callie S. Kwartler,  Ellen R. Regalado,  Rana O. Afifi,  Sandhya Parkash,  Andrea Rideout,  Dong-chuan Guo,  Dianna M. Milewicz, 

• Pages: 2500-2505
• First Published: 21 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

RESEARCH LETTERS

Full Access

full

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Tomoko Uehara,  Takatoshi Tsuchihashi,  Mamiko Yamada,  Hisato Suzuki,  Toshiki Takenouchi,  Kenjiro Kosaki, 

• Pages: 2506-2509
• First Published: 11 September 2019

• First Page
• Full text
• PDF
• References
• Request permissions

Full Access

full

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Mamiko Yamada,  Tomoko Uehara,  Hisato Suzuki,  Toshiki Takenouchi,  Hiroyuki Fukushima,  Naoya Morisada,  Kenta Tominaga,  Motohiro Onoda,  Kenjiro Kosaki, 

• Pages: 2510-2513
• First Published: 06 October 2019

• First Page
• Full text
• PDF
• References
• Request permissions

CORRESPONDENCE

Full Access

full

Comments on: A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient

Carleigh Studtmann,  Leslie E. W. LaConte,  Konark Mukherjee, 

• Pages: 2514-2516
• First Published: 18 September 2019

• Full text
• PDF
• References
• Request permissions

ORIGINAL ARTICLE

Full Access

full

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

Steven D. Klein,  Dzung C. Nguyen,  Viraj Bhakta,  Derek Wong,  Vivian Y. Chang,  Tom B. Davidson,  Julian A. Martinez-Agosto, 

• Pages: 2517-2531
• First Published: 22 October 2019

• Abstract
• Full text
• PDF
• References
• Request permissions

Sign up for email alerts

Enter your email to receive alerts when new articles and issues are published.

Email address*

Please select your location and accept the terms of use.

Country or location*

Open this select menuAfghanistanÅland IslandsAlbaniaAlgeriaAmerican SamoaAndorraAngolaAnguillaAntarcticaAntigua And BarbudaArgentinaArmeniaArubaAustraliaAustriaAzerbaijanBahamasBahrainBangladeshBarbadosBelarusBelgiumBelizeBeninBermudaBhutanBoliviaBonaire, Sint Eustatius And SabaBosnia And HerzegovinaBotswanaBouvet IslandBrazilBritish Indian Ocean TerritoryBrunei DarussalamBulgariaBurkina FasoBurundiCambodiaCameroonCanadaCape VerdeCayman IslandsCentral African RepublicChadChileChinaChristmas IslandCocos (keeling) IslandsColombiaComorosCongoCongo, The Democratic Republic Of TheCook IslandsCosta RicaCôte D'ivoireCroatiaCubaCuraçaoCyprusCzech RepublicDenmarkDjiboutiDominicaDominican RepublicEcuadorEgyptEl SalvadorEquatorial GuineaEritreaEstoniaEthiopiaFalkland Islands (malvinas)Faroe IslandsFijiFinlandFranceFrench GuianaFrench PolynesiaFrench Southern TerritoriesGabonGambiaGeorgiaGermanyGhanaGibraltarGreeceGreenlandGrenadaGuadeloupeGuamGuatemalaGuernseyGuineaGuinea-bissauGuyanaHaitiHeard Island And Mcdonald IslandsHoly See (vatican City State)HondurasHong KongHungaryIcelandIndiaIndonesiaIran, Islamic Republic OfIraqIrelandIsle Of ManIsraelItalyJamaicaJapanJerseyJordanKazakhstanKenyaKiribatiKorea, Democratic People's Republic OfKorea, Republic OfKosovo, Republic OfKuwaitKyrgyzstanLao People's Democratic RepublicLatviaLebanonLesothoLiberiaLibyan Arab JamahiriyaLiechtensteinLithuaniaLuxembourgMacaoMacedonia, The Former Yugoslav Republic OfMadagascarMalawiMalaysiaMaldivesMaliMaltaMarshall IslandsMartiniqueMauritaniaMauritiusMayotteMexicoMicronesia, Federated States OfMoldova, Republic OfMonacoMongoliaMontenegroMontserratMoroccoMozambiqueMyanmarNamibiaNauruNepalNetherlandsNetherlands AntillesNew CaledoniaNew ZealandNicaraguaNigerNigeriaNiueNorfolk IslandNorthern Mariana IslandsNorwayOmanPakistanPalauPalestinian Territory, OccupiedPanamaPapua New GuineaParaguayPeruPhilippinesPitcairnPolandPortugalPuerto RicoQatarReunionRomaniaRussian FederationRwandaSaint BarthélemySaint HelenaSaint Kitts And NevisSaint LuciaSaint MartinSaint Pierre And MiquelonSaint Vincent And The GrenadinesSamoaSan MarinoSao Tome And PrincipeSaudi ArabiaSenegalSerbiaSeychellesSierra LeoneSingaporeSint MaartenSlovakiaSloveniaSolomon IslandsSomaliaSouth AfricaSouth Georgia And The South Sandwich IslandsSouth SudanSpainSri LankaSudanSurinameSvalbard And Jan MayenSwazilandSwedenSwitzerlandSyrian Arab RepublicTaiwanTajikistanTanzania, United Republic OfThailandTimor-lesteTogoTokelauTongaTrinidad And TobagoTunisiaTürkiyeTurkmenistanTurks And Caicos IslandsTuvaluUgandaUkraineUnited Arab EmiratesUnited KingdomUnited StatesUnited States Minor Outlying IslandsUruguayUzbekistanVanuatuVenezuela, Bolivarian Republic OfViet NamVirgin Islands, BritishVirgin Islands, U.s.Wallis And FutunaWestern SaharaYemenZambiaZimbabwe

I consent to Wiley Online Library’s Terms of Use and processing of my personal data as disclosed in Wiley’s Privacy Policy.*I consent to my personal information being transferred outside of the People’s Republic of China as laid out in Wiley’s Privacy Policy.*(Optional) I consent to special offers, newsletter & promotions from Wiley. See Privacy Policy for more details.

Sign up to alerts

Continue

Tools

• Submit an article

• Journal Metrics

• Subscribe to this journal

More from this journal

• Call for Nominations: 2025 John M. Opitz Young Investigator Award
• Winners and Nominees for the 2024 John M. Opitz Young Investigator Award
• Virtual Issue: Cancer in Genetic Syndromes
• Virtual Issue: Robinow Article Series
• Virtual Issue: Sex Chromosome Disorders
• Virtual Issue: Case Reports in Diverse Populations
• Virtual Issue: Elements of Morphology: Standard Terminology
• All Virtual Issues
• CME Credit for Reviewers
• Nosology of genetic skeletal disorders: 2023 revision
• Self-Archiving Policy
• Getting Your Scientific Paper Written & Published When English Is Your Second Language