Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement-Reference-Cited by-同舟云学术

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Published:2013-03-01 Issue:5 Volume:50 Page:309-323
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Schmidts Miriam,Arts Heleen H,Bongers Ernie M H F,Yap Zhimin,Oud Machteld M,Antony Dinu,Duijkers Lonneke,Emes Richard D,Stalker Jim,Yntema Jan-Bart L,Plagnol Vincent,Hoischen Alexander,Gilissen Christian,Forsythe Elisabeth,Lausch Ekkehart,Veltman Joris A,Roeleveld Nel,Superti-Furga Andrea,Kutkowska-Kazmierczak Anna,Kamsteeg Erik-Jan,Elçioğlu Nursel,van Maarle Merel C,Graul-Neumann Luitgard M,Devriendt Koenraad,Smithson Sarah F,Wellesley Diana,Verbeek Nienke E,Hennekam Raoul C M,Kayserili Hulya,Scambler Peter J,Beales Philip L,Knoers Nine VAM,Roepman Ronald,Mitchison Hannah M

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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