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Article

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

PloS one - 1 Jan 2014

Raykova Doroteya, Klar Joakim, Azhar Aysha, Khan Tahir Naeem, Malik Naveed Altaf, Iqbal Muhammad, Tariq Muhammad, Baig Shahid Mahmood, Dahl Niklas

Abstract excerpt

Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the keratin gene...

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Source

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Identifiers

PMID: 24714551
DOI: 10.1371/journal.pone.0093607
PMCID: PMC3979697

Genes

KRT74
HOXC13
KRT85

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.PMID 24714551Read ↗

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.Semantic proximity Read ↗

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail typeSemantic proximity Read ↗

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

Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.Semantic proximity Read ↗

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.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 ↗

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

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