Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature-Reference-Cited by-同舟云学术

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature

Published:2017-12 Issue:12 Volume:60 Page:658-666
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Antony Dinu,Nampoory Narayanan,Bacchelli Chiara,Melhem Motasem,Wu Kaman,James Chela T.,Beales Philip L.,Hubank Mike,Thomas Daisy,Mashankar Anant,Behbehani Kazem,Schmidts Miriam^ORCID,Alsmadi Osama

Funder

Kuwait Foundation for the Advancement of Sciences

Radboudumc Nijmegen

Radboud university Excellence fellowship

German research foundation

TREATCilia

NIHR Great Ormond Street Hospital Biomedical Research Centre

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

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5. Ellis-van Creveld syndrome;Baujat;Orphanet J. Rare Dis.,2007

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