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A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

作者信息

Loucks Catrina, Parboosingh Jillian S, Chong Jessica X, Ober Carole, Siu Victoria M, Hegele Robert A, Rupar C Anthony, McLeod D Ross, Pinto Alfredo, Chudley Albert E, Innes A Micheil

机构信息

Department of Medical Genetics, Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.

出版信息

Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11.

DOI:10.1002/ajmg.a.35302

PMID:22495976

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4247856/

Abstract

摘要

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Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Am J Med Genet A. 2010 Jul;152A(7):1808-11. doi: 10.1002/ajmg.a.33462.

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.

Am J Med Genet A. 2010 Jan;152A(1):262-3. doi: 10.1002/ajmg.a.33163.

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Eur J Pediatr. 2009 Aug;168(8):1007-12. doi: 10.1007/s00431-008-0868-x. Epub 2008 Nov 20.

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Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.

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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

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A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

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