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Article

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.

Clinical and experimental dermatology - 1 Jul 2017

Mehmood S, Raza S I, Van Bokhoven H, Ahmad W

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28543635
DOI: 10.1111/ced.13115

Genes

HOXC13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.PMID 28543635Read ↗

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.Semantic proximity Read ↗

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.Semantic proximity Read ↗

Genetics of human isolated hereditary nail disorders.Semantic proximity Read ↗

Hoxc13 mutant mice lack external hair.Semantic proximity Read ↗

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.Semantic proximity Read ↗

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.Semantic proximity Read ↗

Genetic hair and nail disorders.Semantic proximity Read ↗

Human HOX gene disorders.Semantic proximity Read ↗

Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13.Semantic proximity Read ↗

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.Semantic proximity Read ↗

SPECIFIC ECTODERMAL ENHANCERS CONTROL THE EXPRESSION OF <i>Hoxc</i> GENES IN DEVELOPING MAMMALIAN INTEGUMENTSSemantic proximity Read ↗

Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopeciaSemantic proximity Read ↗

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