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Article

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

Journal of dermatological science - 1 Jan 2008

Clements Suzanne E, Wessagowit Vesarat, Lai-Cheong Joey E, Arita Ken, McGrath John A

Abstract excerpt

BACKGROUND: Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development. Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnormalities of bone, nails, hair, limbs, teeth and eyes. The molecular basis of FDH involves mutations in the PORCN gene, which encodes an enzyme that allows membrane targeting and...

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Source

Identifiers

PMID: 17951029
DOI: 10.1016/j.jdermsci.2007.09.004

Genes

PORCN
GAA

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.

Related research

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Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.PMID 17951029Read ↗

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

Novel PORCN mutations in focal dermal hypoplasia.Semantic proximity Read ↗

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.Semantic proximity Read ↗

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.Semantic proximity Read ↗

PORCN gene mutations and the protean nature of focal dermal hypoplasia.Semantic proximity Read ↗

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.Semantic proximity Read ↗

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.Semantic proximity Read ↗

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.Semantic proximity Read ↗

Goltz syndrome and PORCN mosaicism.Semantic proximity Read ↗

Focal dermal hypoplasia without focal dermal hypoplasia.Semantic proximity Read ↗

PORCN mutations in focal dermal hypoplasia: coping with lethality.Semantic proximity Read ↗

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.Semantic proximity Read ↗

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