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Article

Focal dermal hypoplasia without focal dermal hypoplasia.

American journal of medical genetics. Part A - 1 Mar 2014

Contreras-Capetillo Silvina N, Lombardi Maria Paola, Pinto-Escalante Doris, Hennekam Raoul C

Abstract excerpt

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome) is an X-linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by PORCN mutations. Here we describe a mother and daughter with FDH in whom a c.938T>G in PORCN was...

Topics

Acyltransferases
Adult
Bone and Bones
Child, Preschool
Female
Focal Dermal Hypoplasia
Humans
Membrane Proteins
Mutation
Phenotype
Radiography
Skin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24357603
DOI: 10.1002/ajmg.a.36341

Genes

PORCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Focal dermal hypoplasia without focal dermal hypoplasia.PMID 24357603Read ↗

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

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

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

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