Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome-Reference-Cited by-同舟云学术

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

Published:2017-04-27 Issue:9 Volume:62 Page:851-855
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nagasaka Miwako,Taniguchi-Ikeda Mariko,Inagaki Hidehito,Ouchi Yuya,Kurokawa Daisuke,Yamana Keiji,Harada Risa,Nozu Kandai,Sakai Yoshitada,Mishra Sushil K,Yamaguchi Yoshiki,Morioka Ichiro,Toda Tatsushi,Kurahashi Hiroki,Iijima Kazumoto

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg201748.pdf

Reference20 articles.

1. Adams, F. H. & Oliver, C. P. Hereditary deformities in man-due to arrested development. J. Hered. 36, 2–7 (1945).

2. Hoyme, H. E., Jones, K. L., Van Allen, M. I., Saunders, B. S. & Benirschke, K. Vascular pathogenesis of transverse limb reduction defects. J. Pediatr. 101, 839–843 (1982).

3. Whitley, C. B. & Gorlin, R. J. Adams-Oliver syndrome revisited. Am. J. Med. Genet. 40, 319–326 (1991).

4. Bork, K. & Pfeifle, J. Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. Br. J. Dermatol. 127, 160–163 (1992).

5. Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M. et al. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am. J. Hum. Genet. 88, 574–585 (2011).

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