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Article

Cognitive and psychological functioning in focal dermal hypoplasia.

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

Deidrick Kathleen K M, Early Martha, Constance Jordan, Stein Margot, Fete Timothy J

Abstract excerpt

Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts the primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, and vision and hearing. To date, there has been no systematic research examining the psychoeducational impact of the disorder. The current study examined emotional, behavioral, adaptive,...

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Identifiers

PMID: 26818018
DOI: 10.1002/ajmg.c.31471

Genes

PORCN

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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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