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Article

A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

American journal of human genetics - 12 Aug 2011

Nousbeck Janna, Burger Bettina, Fuchs-Telem Dana, Pavlovsky Mor, Fenig Shlomit, Sarig Ofer, Itin Peter, Sprecher Eli

Abstract excerpt

Monogenic disorders offer unique opportunities for researchers to shed light upon fundamental physiological processes in humans. We investigated a large family affected with autosomal-dominant adermatoglyphia (absence of fingerprints) also known as the "immigration delay disease." Using linkage and haplotype analyses, we mapped the disease phenotype to 4q22. One of the genes located in this interval is SMARCAD1,...

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Identifiers

PMID: 21820097
DOI: 10.1016/j.ajhg.2011.07.004
PMCID: PMC3155166

Genes

SMARCAD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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