A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I-Reference-Cited by-同舟云学术

A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I

Published:2001-05 Issue:5 Volume:59 Page:366-367
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Hatamura Ikuji,Kanauchi Yumiko,Takahara Masatoshi,Fujiwara Masao,Muragaki Yasuteru,Ooshima Akira,Ogino Toshihiko

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.590513.x/fullpdf

Reference3 articles.

1. Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases;Giedion;Helv Paediatr Acta,1973

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

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1. Molecular genetic analysis and growth hormone response in patients with syndromic short stature;BMC Medical Genomics;2021-11-05

2. Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family;Genes & Genomics;2016-12-28

3. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3–q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1;Taiwanese Journal of Obstetrics and Gynecology;2015-10

4. An interstitial deletion of 8q23.3–q24.22 associated with Langer–Giedion syndrome, Cornelia de Lange syndrome and epilepsy;Gene;2013-10

5. Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I;Gene;2013-07