A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia-Reference-Cited by-同舟云学术

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia

Published:2011-03-17 Issue:5 Volume:56 Page:398-400
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Dai Jin,Kim Ok-Hwa,Cho Tae-Joon,Miyake Noriko,Song Hae-Ryong,Karasugi Tatsuki,Sakazume Satoru,Ikema Masahide,Matsui Yoshito,Nagai Toshiro,Matsumoto Naomichi,Ohashi Hirofumi,Kamatani Naoyuki,Nishimura Gen,Furuichi Tatsuya,Takahashi Atsushi,Ikegawa Shiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201128.pdf

Reference10 articles.

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2. Faivre, L., Cormier-Daire, V., Eliott, A. M., Field, F., Munnich, A., Maroteaux, P. et al. Desbuquois dysplasia, a reevaluation with abnormal and ‘normal’ hands: radiographic manifestations. Am. J. Med. Genet. A 124A, 48–53 (2004).

3. Kim, O. H., Nishimura, G., Song, H. R., Matsui, Y., Sakazume, S., Yamada, M. et al. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpal, and elongated phalanges: report of seven cases. Am. J. Med. Genet. A 152A, 875–885 (2010).

4. Huber, C., Oules, B., Bertoli, M., Chami, M., Fradin, M., Alanay, Y. et al. Identification of CANT1 mutations in Desbuquois dysplasia. Am. J. Hum. Genet. 85, 706–710 (2009).

5. Faden, M., Al-Zahrani, F., Arafah, D. & Alkuraya, F. S. Mutation of CANT1 causes Desbuquois dysplasia. Am. J. Med. Genet. A 152A, 1157–1160 (2010).

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