A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in theZMPSTE24gene-Reference-Cited by-同舟云学术

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in theZMPSTE24gene

Published:2009-07 Issue:7 Volume:149A Page:1550-1554
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chen Ming,Kuo Hsiang-Hsu,Huang Yi-Chen,Ke Yu-Yuan,Chang Shun-Ping,Chen Chih-Ping,Lee Dong-Jay,Lee Meng-Luen,Lee Mei-Hui,Chen Tze-Ho,Chen Chia-Hsiang,Lin Hui-Mei,Liu Chin-San,Ma Gwo-Chin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32768/fullpdf

Reference11 articles.

1. Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies;Kim;Prenat Diagn,2007

2. Complete chorioamniotic membrane separation;Lewi;Fetal Diagn Ther,2004

3. Restrictive dermopathy: Report and review;Mau;Am J Med Genet,1997

4. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy;Moulson;J Invest Dermatol,2005

5. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy;Navarro;Hum Mol Genet,2004

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