Faculty Opinions recommendation of Precocious osteoarthritis in a family with recurrent COL2A1 mutation.

2015 ◽  
Author(s):  
Di Chen
Keyword(s):  
Col2a1 Mutation

scholarly journals A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  
Keyword(s):  
Chinese Family ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Col2a1 Mutation

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation

2011 ◽  
Vol 15 (3) ◽  
pp. 311-313 ◽  
Author(s):  
Christina Gerth-Kahlert ◽  
Salvatore Grisanti ◽  
Eike Berger ◽  
Rene Höhn ◽  
Gabriele Witt ◽  
...  
Keyword(s):  
Vitreous Hemorrhage ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

scholarly journals COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family

2021 ◽  
Vol Volume 14 ◽  
pp. 2569-2574
Author(s):  
Pengyu Li ◽  
Anran Wang ◽  
Jiangxia Li ◽  
Xi Li ◽  
Wenjie Sun ◽  
...  
Keyword(s):  
Early Onset ◽  
Chinese Family ◽  
Col2a1 Mutation

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation

1995 ◽  
Vol 95 (4) ◽  
Author(s):  
Andreas Winterpacht ◽  
Katja Hilbert ◽  
Ulrike Schwarze ◽  
Bernhard Zabel
Keyword(s):  
Sscp Analysis ◽  
Type Ii ◽  
New Type ◽  
Col2a1 Mutation

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

1996 ◽  
Vol 63 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Bernhard Zabel ◽  
Katja Hilbert ◽  
Hartmut Stöß ◽  
Andrea Superti-Furga ◽  
Jürgen Spranger ◽  
...  
Keyword(s):  
Collagen Type ◽  
Type Ii ◽  
Collagen Type Ii ◽  
Col2a1 Mutation

scholarly journals P14.04: Persistent notochord in a fetus with COL2A1 mutation: a case report

2015 ◽  
Vol 46 ◽  
pp. 165-165
Author(s):  
E. Codsi ◽  
K. Borowski ◽  
A. Faksh ◽  
M. Trinidad ◽  
C. Rose ◽  
...  
Keyword(s):  
Case Report ◽  
Col2a1 Mutation

Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype

2020 ◽  
Vol 4 (5) ◽  
pp. 522
Author(s):  
Mark P. Breazzano ◽  
Stephen H. Tsang ◽  
Tongalp H. Tezel
Keyword(s):  
Retinitis Pigmentosa ◽  
Stickler Syndrome ◽  
Col2a1 Mutation
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