A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference18 articles.
1. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia;Z Lin;Am J Hum Genet,2012
2. Mutations in KCTD1 cause scalp-ear-nipple syndrome;AG Marneros;Am J Hum Genet,2013
3. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome;G Petrof;Am J Hum Genet,2014
4. Disorders of pigmentation;SK Fistarol;J Dtsch Dermatol Ges,2010
5. Approach to reticulate hyperpigmentation;V Vachiramon;Clin Exp Dermatol,2011
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1. Reticulate skin pigmentation disorders: A morphologic approach. The concept of reticulate disorders of keratinization;Annales de Dermatologie et de Vénéréologie;2023-12
2. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita;The American Journal of Human Genetics;2022-08
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