Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene-Reference-Cited by-同舟云学术

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

Published:2017-02-28 Issue:4 Volume:42 Page:432-434
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Ye D.¹,Fei Y.²,Sheng Y.-E.²,Qiao J.-J.³,Dong F.-Q.¹

Affiliation:

1. Department of Endocrinology and Metabolism; The First Affiliated Hospital; College of Medicine Zhejiang University; 79 Qing Chun Road Hang Zhou 310003 PR China

2. Department of Endocrinology and Metabolism; People's Hospital of Fuyang City; Zhejiang Province PR China

3. Department of Dermatology; The First Affiliated Hospital; College of Medicine Zhejiang University; 79 Qing Chun Road Hang Zhou 310003 PR China

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13082/fullpdf

Reference6 articles.

1. Das tricho-rhino-phalangeale syndrome;Giedon;Helv Paediatr Acta,1966

2. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I;Fryns;Hum Genet,1986

3. Human Gene Mutation Database http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TRPS1

4. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome;Napierala;Hum Mol Genet,2008

5. Analysis of novel and recurrent mutations responsible for the trichorhino-phalangeal syndromes;Hilton;J Hum Genet,2002

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