Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies-Reference-Cited by-同舟云学术

Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

Published:2015-08-17 Issue:10 Volume:36 Page:1015-1019
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Loucks Catrina M.¹,Parboosingh Jillian S.¹²,Shaheen Ranad³,Bernier Francois P.¹²,McLeod D. Ross¹,Seidahmed Mohammed Z.⁴,Puffenberger Erik G.⁵,Ober Carole⁶,Hegele Robert A.⁷,Boycott Kym M.⁸,Alkuraya Fowzan S.³⁹¹⁰,Innes A. Micheil¹²

Affiliation:

1. Department of Medical Genetics; Cumming School of Medicine; University of Calgary; Calgary Alberta Canada

2. Alberta Children's Hospital Research Institute for Child and Maternal Health; University of Calgary; Calgary Alberta Canada

3. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyhadh 11211 Saudi Arabia

4. Department of Pediatrics; Security Forces Hospital; Riyadh 12625 Saudi Arabia

5. Clinic for Special Children; Strasburg Pennsylvania

6. Department of Human Genetics, and Department of Obstetrics and Gynecology; The University of Chicago; Chicago Illinois

7. Department of Paediatrics; University of Western Ontario; London Ontario Canada

8. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

9. Department of Anatomy and Cell Biology; College of Medicine; Alfaisal University; Riyadh 11533 Saudi Arabia

10. Saudi Human Genome Program; King Abdulaziz City for Science and Technology; Riyadh 11442 Saudi Arabia

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22843/fullpdf

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5. DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources;Firth;Am J Hum Genet,2009

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