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Article

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Clinical genetics - 1 Apr 2008

Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V

Abstract excerpt

Focal dermal hypoplasia (FDH) is an X-linked dominant disorder characterized by patchy dermal hypoplasia with digital, ocular and dental abnormalities. Very recently, mutations in the PORCN gene were demonstrated to cause FDH. Here, we described three unrelated Thai girls who were sporadic cases of FDH. One of them had unilateral athelia, which has never been described in FDH. Mutation analysis by polymerase...

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Source

Identifiers

PMID: 18325042
DOI: 10.1111/j.1399-0004.2008.00975.x

Genes

PORCN

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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