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Article

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Journal of medical genetics - 1 Oct 2009

Maas S M, Lombardi M P, van Essen A J, Wakeling E L, Castle B, Temple I K, Kumar V K A, Writzl K, Hennekam Raoul C M

Abstract excerpt

BACKGROUND: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. METHOD: A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. RESULTS: In 14 patients (13 females...

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Source

Identifiers

PMID: 19586929
DOI: 10.1136/jmg.2009.068403

Genes

PORCN

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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