Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation-Reference-Cited by-同舟云学术

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

Published:2018-11-18 Issue:12 Volume:176 Page:2887-2891
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hanson-Kahn Andrea¹^ORCID,Li Bing²,Cohn Daniel H.²³⁴^ORCID,Nickerson Deborah A.⁵,Bamshad Michael J.⁵⁶,Hudgins Louanne¹,

Affiliation:

1. Department of Pediatrics, Division of Medical Genetics; Stanford University Medical Center; Stanford California

2. Department of Molecular, Cell and Developmental Biology; University of California, Los Angeles; Los Angeles California

3. Department of Orthopaedic Surgery; University of California, Los Angeles; Los Angeles California

4. International Skeletal Dysplasia Registry at UCLA; Los Angeles California

5. Department of Genome Sciences; University of Washington; Seattle Washington

6. Department of Pediatrics; University of Washington; Seattle Washington

Funder

National Institute of Dental and Craniofacial Research

University of Washington Center for Mendelian Genomics (UW CMG) which is funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung and Blood Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40647/fullpdf

Reference24 articles.

1. Stop codon in the procollagen II gene (COL2A1) in a family with the stickler syndrome (arthro-ophthalmopathy);Ahmad;Proceedings of the National Academy of Sciences of the United States of America,1991

2. Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency?;Alzahrani;Gene,2012

3. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients;Asamura;Auris Nasu Larynx,2005

4. A loss of function mutation in the COL9A2 gene causes autosomal recessive stickler syndrome;Baker;American Journal of Medical Genetics. Part A,2011

5. Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene;Faletra;American Journal of Medical Genetics. Part A,2014

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