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Article

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

PloS one - 1 Jan 2012

Liu Wei, Shaver Timothy M, Balasa Alfred, Ljungberg M Cecilia, Wang Xiaoling, Wen Shu, Nguyen Hoang, Van den Veyver Ignatia B

Abstract excerpt

BACKGROUND: Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue...

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Identifiers

PMID: 22412863
DOI: 10.1371/journal.pone.0032331
PMCID: PMC3295752

Genes

PORCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).PMID 22412863Read ↗

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