Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene

被引：4

作者：

Ye, D. ^{[1
]}

Fei, Y. ^{[3
]}

Sheng, Y. -E. ^{[3
]}

Qiao, J. -J. ^{[2
]}

Dong, F. -Q. ^{[1
]}

机构：

[1] Zhejiang Univ, Coll Med, Affiliated Hosp 1, Dept Endocrinol & Metab, 79 Qing Chun Rd, Hangzhou 310003, Zhejiang, Peoples R China

[2] Zhejiang Univ, Coll Med, Affiliated Hosp 1, Dept Dermatol, 79 Qing Chun Rd, Hangzhou 310003, Zhejiang, Peoples R China

[3] Peoples Hosp Fuyang City, Dept Endocrinol & Metab, Fuyang, Zhejiang, Peoples R China

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2017年 / 42卷 / 04期

关键词：

D O I：

10.1111/ced.13082

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：432 / 434

页数：4

共 4 条

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[2]

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Wells, DE .

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[4] Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome [J].

Napierala, Dobrawa ;

Sam, Kathy ;

Morello, Roy ;

Zheng, Qiping ;

Munivez, Elda ;

Shivdasani, Ramesh A. ;

Lee, Brendan .

HUMAN MOLECULAR GENETICS, 2008, 17 (14) :2244-2254

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