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Article

Oral phenotype and variation in focal dermal hypoplasia.

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

Wright John Timothy, Puranik Chaitanya P, Farrington Frank

Abstract excerpt

Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal...

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Identifiers

PMID: 26843121
DOI: 10.1002/ajmg.c.31478

Genes

PORCN

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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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Oral phenotype and variation in focal dermal hypoplasia.PMID 26843121Read ↗

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A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.Semantic proximity Read ↗

Oral manifestations associated with focal dermal hypoplasia.Semantic proximity Read ↗

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

Clinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.Semantic proximity Read ↗

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.Semantic proximity Read ↗

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