Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene-Reference-Cited by-同舟云学术

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

Published:2010-07 Issue:1 Volume:87 Page:146-153
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Sun Yu,Almomani Rowida,Aten Emmelien,Celli Jacopo,van der Heijden Jaap,Venselaar Hanka,Robertson Stephen P.,Baroncini Anna,Franco Brunella,Basel-Vanagaite Lina,Horii Emiko,Drut Ricardo,Ariyurek Yavuz,den Dunnen Johan T.,Breuning Martijn H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome;Bacino;Am. J. Med. Genet.,2000

2. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter;Zhang;Am. J. Hum. Genet.,2000

3. A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization;Horii;Am. J. Med. Genet.,1998

4. Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome;Drut;Int. J. Surg. Pathol.,2005

5. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations;Breuning;Am. J. Med. Genet.,2000

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