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Article

Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

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

Gisseman Jordan D, Herce Honey H

Abstract excerpt

Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on...

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Source

Identifiers

PMID: 27001926
DOI: 10.1002/ajmg.c.31480

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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