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Article

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2016

Bostwick Bret, Fang Ping, Patel Ankita, Sutton V Reid

Abstract excerpt

Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical...

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Source

Identifiers

PMID: 26853229
DOI: 10.1002/ajmg.c.31473

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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Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.PMID 26853229Read ↗

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Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.Semantic proximity Read ↗

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