A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
about
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologistAdvances in Skeletal Dysplasia GeneticsArray-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Hearing impairment in Stickler syndrome: a systematic review.Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Mosaicism in Stickler syndrome.Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.Identification and characterization of mouse otic sensory lineage genes.Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrumInsight into the molecular genetics of myopia.Conserved and Divergent Features of Mesenchymal Progenitor Cell Types within the Cortical Nephrogenic Niche of the Human and Mouse Kidney.Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.From Structure to Phenotype: Impact of Collagen Alterations on Human Health.Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
P2860
Q27006965-554EDE8A-A2C5-45B3-B50F-FA6BB4A1EE65Q28261525-714E6F19-302B-472A-BB12-EAE81EE3D349Q34009396-CB744D57-6943-4446-9418-9DB2F1A3BF97Q36552368-9C72231D-49F6-46E0-A4B2-F98E8EA2EC0EQ36765813-A5354740-4656-4591-9ED8-DC83AE33C23DQ36908261-C5C2938C-E9EF-4C9F-B6CA-A2A2835A2E71Q37267555-E291940F-2949-49E2-B51E-CE530DFB2876Q41102470-B9E8A949-C39B-4085-AAB6-BA85B5E11AD0Q42174674-B09D22D4-22AA-4581-B5B6-01857D3D911FQ47701145-7A38F470-C748-4855-B7FD-593C76518632Q49959878-DD33E3BF-91DF-4827-87D5-0BD85AE5BC87Q50021909-23CC8B76-7612-41F6-B34A-BA16F6C97B1DQ50312975-7A069831-AEC1-4B76-B60D-58F73E8807BAQ52720562-511CEA82-2F30-47F6-AB21-8E2DE97D9FB5Q53834375-02DA69D2-1C64-4F2D-B435-1AED921C9CC8Q54541542-E1C4B16C-0697-4727-8341-D79A9EE22C2AQ55096200-C71CE38F-33CD-429D-8CA4-F971B35C3F29Q58790671-03786CD8-E496-4787-8A99-EFAC31A5AF16
P2860
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
A loss of function mutation in ...... l recessive Stickler syndrome.
@en
A loss of function mutation in ...... l recessive Stickler syndrome.
@nl
type
label
A loss of function mutation in ...... l recessive Stickler syndrome.
@en
A loss of function mutation in ...... l recessive Stickler syndrome.
@nl
prefLabel
A loss of function mutation in ...... l recessive Stickler syndrome.
@en
A loss of function mutation in ...... l recessive Stickler syndrome.
@nl
P2093
P2860
P356
P1476
A loss of function mutation in ...... l recessive Stickler syndrome.
@en
P2093
Carol Booth
Corrine Fillman
James C Hyland
Leena Ala-Kokko
Michael P Blair
Michael Shapiro
Stuart Baker
P2860
P304
P356
10.1002/AJMG.A.34071
P407
P577
2011-06-10T00:00:00Z