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Article

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

International journal of dermatology - 1 Dec 2017

Shah Khadim, Mehmood Sabba, Jan Abid, Abbe Izoduwa, Hussain Ali Raja, Khan Anwar, Chishti Muhammad S, Lee Kwanghyuk, Ahmad Farooq, Ansar Muhammad, Shahzad Shaheen, Nickerson Deborah A, Bamshad Michael J, Coucke Paul J, Santos-Cortez Regie L P, Spritz Richard A, Leal Suzanne M, Ahmad Wasim

Abstract excerpt

BACKGROUND: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS: Exome...

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Source

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Identifiers

PMID: 29130490
DOI: 10.1111/ijd.13778
PMCID: PMC6094939

Genes

FERMT1
ABHD5
ALOXE3
ERCC5
FLG
KRT14
PPOX

Variants

Provenance

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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