An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction
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DOI: 10.1111/bjd.16276
Abstract: DEAR EDITOR, Pure hair and nail ectodermal dysplasia (PHNED) is an autosomal recessive ectodermal dysplasia (ED) that is characterized by hypotrichosis and nail dystrophy only, without further ectodermal or nonectodermal alterations. To date, homozygous mutations… read more here.
Keywords: pure hair; hair nail; nail ectodermal; dysplasia ... See more keywords