Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family-Reference-Cited by-同舟云学术

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Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family

Published:2016-12-28 Issue:4 Volume:39 Page:417-422
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

Yoon Byulee,Kim Yun-Ji,Son Seung-Yeol,Han Kyudong,Park Byung Cheol

Funder

National Research Foundation of Korea

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s13258-016-0508-1.pdf

Reference13 articles.

1. Chen LH, Ning CC, Chao SC (2010) Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. Br J Dermatol 163:416–419

2. Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS et al (2014) Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. J Hum Genet 59:321–325

3. Hatamura I, Kanauchi Y, Takahara M, Fujiwara M, Muragaki Y, Ooshima A, Ogino T (2001) A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. Clin Genet 59:366–367

4. Jin HS, Lee JB, Kim K, Lee KY, Choi VN, Kim JS, Jeong SY, Yim SY (2014) Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. J Hum Genet 59:643–647

5. Ketting RF, Haverkamp TH, van Luenen HG, Plasterk RH (1999) Mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD. Cell 99:133–141

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