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Article

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

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

Bostwick Bret, Fang Ping, Patel Ankita, Sutton V Reid

Abstract excerpt

Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical...

Topics

Acyltransferases
Alleles
Amino Acid Substitution
Cohort Studies
Facies
Female
Focal Dermal Hypoplasia
Genetic Association Studies
Genotype
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Mutation

Phenotype

Skin

Source

Identifiers

PMID: 26853229
DOI: 10.1002/ajmg.c.31473

Genes

PORCN

Provenance

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

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