Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing-Reference-Cited by-同舟云学术

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Published:2014-11 Issue:3 Volume:113 Page:230-235
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Acke Frederic R.^ORCID,Malfait Fransiska,Vanakker Olivier M.,Steyaert Wouter,De Leeneer Kim,Mortier Geert,Dhooge Ingeborg,De Paepe Anne^ORCID,De Leenheer Els M.R.^ORCID,Coucke Paul J.

Funder

FWO

Research Foundation Flanders

Ghent University

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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3. Clinical and molecular genetics of Stickler syndrome;Snead;J. Med. Genet.,1999

4. Hearing impairment in Stickler syndrome: a systematic review;Acke;Orphanet J. Rare Dis.,2012

5. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy);Ahmad;Proc. Natl. Acad. Sci. U. S. A.,1991

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