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  American Journal of Medical Genetics Part A: Volume 146A, Issue 21

  Pages: 2715-2844

  1 November 2008

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Invited Comments

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Ethical and policy lessons to be learned from a family with inherited bone marrow failure^†

Lainie Friedman Ross, 

• Pages: 2715-2718
• First Published: 15 October 2008

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Research Articles

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All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative^†‡

Colleen C. Denny,  Benjamin S. Wilfond,  June A. Peters,  Neelam Giri,  Blanche P. Alter, 

• Pages: 2719-2724
• First Published: 01 October 2008

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Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation^†‡

Abimbola A. Obafemi,  Dorothy I. Bulas,  James Troendle,  Joan C. Marini, 

• Pages: 2725-2732
• First Published: 16 September 2008

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Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia^†

Tom G.W. Letteboer,  Hans-Jurgen Mager,  Repke J. Snijder,  Dick Lindhout,  Hans-Kristian Ploos van Amstel,  Pieter Zanen,  Kees J.J. Westermann, 

• Pages: 2733-2739
• First Published: 01 October 2008

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Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes^†

Daniel Zanetti Scherrer,  Fabiana Alexandrino,  Maria Letícia Cintra,  Edi Lúcia Sartorato,  Carlos Eduardo Steiner, 

• Pages: 2740-2745
• First Published: 25 September 2008

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Molecular characterization of a patient with 3p deletion syndrome and a review of the literature^†‡

Thomas V. Fernandez,  I.J. García-González,  Christopher E. Mason,  G. Hernández-Zaragoza,  V.C. Ledezma-Rodríguez,  V.M. Anguiano-Alvarez,  R. E'Vega,  M. Gutiérrez-Angulo,  M.L. Maya,  H.E. García-Bejarano,  M. González-Cruz,  S. Barrios,  R. Atorga,  M.G. López-Cardona,  J. Armendariz-Borunda,  Matthew W. State,  Nory O. Dávalos, 

• Pages: 2746-2752
• First Published: 03 October 2008

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Association between cerebral shape and social use of language in Williams syndrome^†

Doron Gothelf,  Yvonne M. Searcy,  Judy Reilly,  Philip T. Lai,  Tope Lanre-Amos,  Debra Mills,  Julie R. Korenberg,  Albert Galaburda,  Ursula Bellugi,  Allan L. Reiss, 

• Pages: 2753-2761
• First Published: 15 October 2008

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Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco^†‡

Rahima Mostefai,  Fanny Morice-Picard,  Franck Boralevi,  Michel Sautarel,  Didier Lacombe,  Marie José Stasia,  John McGrath,  Alain Taïeb, 

• Pages: 2762-2769
• First Published: 16 October 2008

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Supernumerary marker chromosomes management in prenatal diagnosis^†

Nicolas Gruchy,  Marine Lebrun,  Michel Herlicoviez,  Jacques Alliet,  Dominique Gourdier,  Marie-Laure Kottler,  Hervé Mittre,  Nathalie Leporrier, 

• Pages: 2770-2776
• First Published: 16 October 2008

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Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)^†

Marzena Gajecka,  Reem Saadeh,  Katherine L. Mackay,  Caron D. Glotzbach,  Krystyna Spodar,  David Chitayat,  Lisa G. Shaffer, 

• Pages: 2777-2784
• First Published: 27 October 2008

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Clinical Reports

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Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation^†

Emily Chen,  Elise Obolensky,  Katherine A. Rauen,  Lisa G. Shaffer,  Xu Li, 

• Pages: 2785-2790
• First Published: 15 October 2008

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Kapur–Toriello syndrome: Further delineation^†

Emiy Yokoyama,  Angélica Martínez,  Ariadna González-del Angel, 

• Pages: 2791-2793
• First Published: 01 October 2008

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Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters^†

Adele Schneider,  Tanya M. Bardakjian,  Jie Zhou,  Nkecha Hughes,  Rosanne Keep,  Darnelle Dorsainville,  Femida Kherani,  James Katowitz,  Lisa A. Schimmenti,  Marybeth Hummel,  David R. FitzPatrick,  Terri L. Young, 

• Pages: 2794-2798
• First Published: 01 October 2008

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Tetra-amelia and lung hypo/aplasia syndrome: New case report and review^†

Sérgio B. Sousa,  Raquel Pina,  Lina Ramos,  Naigel Pereira,  Martin Krahn,  Wiktor Borozdin,  Jürgen Kohlhase,  Marta Amorim,  Katia Gonnet,  Nicolas Lévy,  Isabel M. Carreira,  Ana Bela Couceiro,  Jorge M. Saraiva, 

• Pages: 2799-2803
• First Published: 03 October 2008

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Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation^†

Nicola Brunetti-Pierri,  Daniela del Gaudio,  Hartmut Peters,  Henri Justino,  Claus-Eric Ott,  Stefan Mundlos,  Carlos A. Bacino, 

• Pages: 2804-2809
• First Published: 01 October 2008

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Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation^†

V. Navarro,  C. Scott,  T.A. Briggs,  S. Barete,  C. Frances,  P. Lebon,  T. Maisonobe,  G.I. Rice,  C.H. Wouters,  Y.J. Crow, 

• Pages: 2810-2815
• First Published: 15 October 2008

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A small and active ring x chromosome in a female with features of Kabuki syndrome^†

L. Rodríguez,  D. Diego-Alvarez,  I. Lorda-Sanchez,  F.L. Gallardo,  M.L. Martínez-Fernández,  M.E. Arroyo-Muñoz,  M.L. Martínez-Frías, 

• Pages: 2816-2821
• First Published: 16 October 2008

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Phenotypic consequences of a novel SCO2 gene mutation^†

Rob M. Verdijk,  Ronald de Krijger,  Kees Schoonderwoerd,  Valeria Tiranti,  Hubert Smeets,  Lutgarde C.P. Govaerts,  René de Coo, 

• Pages: 2822-2827
• First Published: 15 October 2008

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Research Letters

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Studies of γ-aminobutyric acid type A receptor β3 (GABRB3) and glutamic acid decarboxylase 67 (GAD67) with oral clefts^†

Alexandre R. Vieira,  Alex Howe,  Jeffrey C. Murray, 

• Pages: 2828-2830
• First Published: 03 October 2008

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Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus^†

Niranjan Thomas,  Sumita Danda,  Manish Kumar,  Atanu Kumar Jana,  Giangiorgio Crisponi,  Alessandra Meloni,  Laura Crisponi, 

• Pages: 2831-2834
• First Published: 03 October 2008

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Triphalangeal thumbs with brachyectrodactyly: A sporadic case^†

Alaina M. Brown,  Mark Romness,  Danielle A. Dong,  Thaddeus E. Kelly, 

• Pages: 2835-2836
• First Published: 15 October 2008

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Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8^†

Isabel Filges,  Benno Röthlisberger,  Friedel Wenzel,  Karl Heinimann,  Andreas R. Huber,  Peter Miny, 

• Pages: 2837-2841
• First Published: 15 October 2008

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Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams–Oliver syndrome^†

M.C. Digilio,  Bruno Marino,  Bruno Dallapiccola, 

• Pages: 2842-2844
• First Published: 15 October 2008

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