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Article

Focal Dermal Hypoplasia with Osteopathia Striata.

Medical archives (Sarajevo, Bosnia and Herzegovina) - 1 Aug 2022

Almashaqbeh Shefa S, Aljammal Diana S, Alharahsheh Hend M, Alqudah Samer F, Alkrimeen Rana A

Abstract excerpt

Background: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. Focal dermal hypoplasia is X-linked dominant disease affecting the ectoderm, mesoderm and endoderm. 95% feature de novo and 90% of these are females. Focal dermal hypoplasia is induced by a mutation in the PORCN gene....

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Identifiers

PMID: 36313953
DOI: 10.5455/medarh.2022.76.301-304
PMCID: PMC9559906

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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.

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