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Article

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

European journal of dermatology : EJD - 1 Jan 2000

Rasool Mahmood, Nawaz Sadia, Azhar Aysha, Wajid Muhammad, Westermark Per, Baig Shahid M, Klar Joakim, Dahl Niklas

Abstract excerpt

Hair-nail ectodermal dysplasia (HNED; OMIM 602032) constitutes a rare subgroup of ectodermal dysplasias characterised by onychodystrophy, hypotrichosis and brittle hair. We identified a large consanguineous Pakistani family with four siblings affected by a congenital autosomal recessive form of the disease. Based on previous genetic findings in HNED we performed linkage analysis in the family using chromosome 12...

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Identifiers

PMID: 20409997
DOI: 10.1684/ejd.2010.0962

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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