GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK-Reference-Cited by-同舟云学术

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

Published:2015-08-06 Issue:10 Volume:36 Page:1009-1014
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Au P. Y. Billie¹,You Jing²³,Caluseriu Oana⁴,Schwartzentruber Jeremy⁵,Majewski Jacek⁵,Bernier Francois P.¹⁶,Ferguson Marcia⁷,Valle David³⁸⁹³,Parboosingh Jillian S.¹⁶,Sobreira Nara³,Innes A. Micheil¹⁶,Kline Antonie D.⁷

Affiliation:

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

2. Predoctoral Training Program in Human Genetics; Johns Hopkins University School of Medicine; Baltimore Maryland 21205

3. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland 21205

4. Department of Medical Genetics; University of Alberta, Edmonton; Alberta Canada

5. Department of Human Genetics, McGill and Genome Quebec Innovation Center; McGill University; Quebec Canada

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

7. Harvey Institute for Human Genetics, Department of Pediatrics; Greater Baltimore Medical Center; Baltimore Maryland

8. Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland 21224

9. Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore Maryland 21205

Funder

Genome Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Ontario Research Fund

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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