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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

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author: Fowzan S Alkuraya  Carole Ober  Ranad Shaheen  Robert A. Hegele  A. Micheil Innes  François P. Bernier  Jillian S Parboosingh  Kym M Boycott 

Publication date July 29, 2015
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