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Article

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

BMC medical genetics - 12 Apr 2017

Khan Anwar Kamal, Muhammad Noor, Aziz Abdul, Khan Sher Alam, Shah Khadim, Nasir Abdul, Khan Muzammil Ahmad, Khan Saadullah

Abstract excerpt

BACKGROUND: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. METHODS: In this study, a four generations consanguineous family...

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Source

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Identifiers

PMID: 28403827
DOI: 10.1186/s12881-017-0402-y
PMCID: PMC5389142

Genes

HOXC13
KRT74
KRT85

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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