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Article

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

European journal of dermatology : EJD - 1 Apr 2018

Ahmad Farooq, Ahmed Ishtaiq, Nasir Abdul, Umair Muhammad, Shahzad Shaheen, Muhammad Dost, Santos-Cortez Regie Lyn P, Leal Suzanne M, Ahmad Wasim

Abstract excerpt

Autosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400) syndrome is characterized by diffused congenital ichthyosis and generalized non-scarring hypotrichosis. The underlying genetic cause of ARIH syndrome has been associated with sequence variants of the gene ST14, encoding type II transmembrane serine protease matriptase, which maps to chromosome 11q24.3. The current report aimed to investigate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29611532
DOI: 10.1684/ejd.2017.3210
PMCID: PMC8240033

Genes

TMEFF1
EGF

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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A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.PMID 29611532Read ↗

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