• Issue
    2019
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Case Report
Open Access

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

M. C. J. Dekker,  A. M. Sadiq,  R. Mc Larty,  R. M. Mbwasi,  M. A. A. P. Willemsen,  H. R. Waterham,  B. C. Hamel, 
  • First Published: 31 December 2019
Case Report
Open Access

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Cristian Petter,  Lilia Maria Azevedo Moreira,  Mariluce Riegel, 
  • First Published: 28 December 2019
Case Report
Open Access

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

T. M. Morgan,  J. M. Colazo,  L. Duncan,  R. Hamid,  K. M. Joos, 
  • First Published: 28 December 2019
Case Report
Open Access

Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

A. H. Sabir,  G. Ryan,  Z. Mohammed,  J. Kirk,  N. Kiely,  M. Thyagarajan,  T. Cole, 
  • First Published: 22 December 2019
Corrigendum
Open Access

Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”

Jacquelyn D. Riley,  Catherine M. Stefaniuk,  Francine Erenberg,  Angelika L. Erwin,  Lauren Palange,  Caroline Astbury, 
  • First Published: 24 November 2019

Case Report
Open Access

Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

D. Hettiarachchi,  B. A. P. S. Pathirana,  P. J. Kumarasiri,  V. H. W. Dissanayake, 
  • First Published: 06 November 2019
Case Report
Open Access

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

Baiba Alksere,  Dace Berzina,  Alesja Dudorova,  Una Conka,  Santa Andersone,  Evija Pimane,  Sandra Krasucka,  Arita Blumberga,  Aigars Dzalbs,  Ieva Grinfelde,  Natalija Vedmedovska,  Violeta Fodina,  Juris Erenpreiss, 
  • First Published: 31 October 2019
Case Report
Open Access

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

Manickavasagam Senthilraja,  Aaron Chapla,  Felix K. Jebasingh,  Dukhabhandhu Naik,  Thomas V. Paul,  Nihal Thomas, 
  • First Published: 27 October 2019
Case Report
Open Access

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

Nivedita U. Jerath, 
  • First Published: 09 October 2019
Case Report
Open Access

Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient

Nedal Bukhari,  Faisal Azam,  Mohammed Alfawaz,  Mohammed Zahrani, 
  • First Published: 21 August 2019
Case Series
Open Access

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

Gustav Askaner,  Ulrikke Lei,  Birgitte Bertelsen,  Alessandro Venzo,  Karin Wadt, 
  • First Published: 28 July 2019
Case Report
Open Access

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

Jacquelyn D. Riley,  Catherine M. Stefaniuk,  Francine Erenberg,  Angelika L. Erwin,  Lauren Palange,  Caroline Astbury, 
  • First Published: 25 July 2019

Case Report
Open Access

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

Nathan R. Lindquist,  Eric N. Appelbaum,  Anushree Acharya,  Jeffrey T. Vrabec,  Suzanne M. Leal,  Isabelle Schrauwen, 
  • First Published: 22 July 2019
Case Report
Open Access

Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome

Julian Adlard,  Cathy Burton,  Philip Turton, 
  • First Published: 16 July 2019
Case Series
Open Access

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Inusha Panigrahi,  Manoj Dhanorkar,  Renu Suthar,  Chanchal Kumar,  Mullai Baalaaji,  Babu Ram Thapa,  Jasvinder Kalra, 
  • First Published: 21 April 2019
Case Report
Open Access

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

Theocharis Koufakis,  Amalia Sertedaki,  Elizabeth-Barbara Tatsi,  Christina-Maria Trakatelli,  Spyridon N. Karras,  Eleni Manthou,  Christina Kanaka-Gantenbein,  Kalliopi Kotsa, 
  • First Published: 11 April 2019
Case Report
Open Access

Ocular Manifestations of the NAA10-Related Syndrome

Angela S. Gupta,  Hind Al Saif,  Jennifer M. Lent,  Natario L. Couser, 
  • First Published: 08 April 2019
Case Report
Open Access

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

J. M. Ramirez,  F. A. Rodríguez,  M. I. Echeverría,  A. L. Vargas,  A. E. Calderón,  R. M. Miatello,  N. F. Renna, 
  • First Published: 08 April 2019
Case Report
Open Access

Pallister-Hall Syndrome Presenting in Adolescence

Aria Mahtabfar,  Niall Buckley,  Susan Murphy,  Shabbar Danish,  Ian Marshall, 
  • First Published: 18 March 2019
Case Report
Open Access

Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient

Wai-Yu Wong,  Helen Wong,  Elaine Au,  Eric Chan, 
  • First Published: 24 February 2019
Case Report
Open Access

Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia

A. Rincón,  L. Mora,  F. Suarez-Obando,  J. A. Rojas, 
  • First Published: 12 February 2019
Case Report
Open Access

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

Alejandra Rincon,  Paola Paez-Rojas,  Fernando Suárez-Obando, 
  • First Published: 10 January 2019
Case Report
Open Access

A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

Taishi Fujisawa,  Yoshiyasu Aizawa,  Yoshinori Katsumata,  Akihiro Udo,  Shogo Ito,  Kazumasa Hatakeyama,  Makoto Hirose,  Hiroshi Miyama,  Kazuaki Nakajima,  Takahiko Nishiyama,  Takehiro Kimura,  Masamitsu Nitta,  Kazuo Misumi,  Seiji Takatsuki,  Kenjiro Kosaki,  Keiichi Fukuda, 
  • First Published: 08 January 2019