Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2011.04287.x/fullpdf
Reference10 articles.
1. Infantile systemic hyalinosis;Shin;J Am Acad Dermatol,2004
2. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis;Hanks;Am J Hum Genet,2003
3. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis;Dowling;Am J Hum Genet,2003
4. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis;El-Kamah;Br J Dermatol,2010
5. Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum;Deuquet;Hum Mutat,2009
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