A novelde novononsense mutation in theTRPS1gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I-Reference-Cited by-同舟云学术

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A novelde novononsense mutation in theTRPS1gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I

Published:2013-04-28 Issue:8 Volume:53 Page:1012-1015
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

Farooq Muhammad¹,Fujikawa Hiroki¹²,Fujimoto Atsushi¹²,Kubo Yoshiaki³,Ito Masaaki²,Shimomura Yutaka¹

Affiliation:

1. Laboratory of Genetic Skin Diseases; Niigata University Graduate School of Medical and Dental Sciences; Niigata Japan

2. Division of Dermatology; Niigata University Graduate School of Medical and Dental Sciences; Niigata Japan

3. Department of Dermatology; Institute of Health Biosciences, The University of Tokushima Graduate School; Tokushima Japan

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2012.05694.x/fullpdf

Reference9 articles.

1. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I;Momeni;Nat Genet,2000

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

3. Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis;Fantauzzo;Development,2012

4. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome;Ludecke;Hum Mol Genet,1995

5. The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?;Buhler;Am J Med Genet,1984

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I;The Journal of Dermatology;2022-11-14

2. A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1;European Journal of Dermatology;2018-03

3. A novel mutation in TRPS1 in a patient with tricho-rhino-phalangeal syndrome type 1, accompanied by vesicoureteral reflux;European Journal of Dermatology;2017-11

4. A novelTRPS1mutation in a family with tricho-rhino-phalangeal syndrome type 1;The Journal of Dermatology;2014-06

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