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Article

[The clinical spectrum of focal dermal hypoplasia].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - 1 Nov 1995

Skaria A, Feldmann R, Hauser C

Abstract excerpt

Focal dermal hypoplasia (FHD) is an X chromosomal dominant inherited disease with unknown gene defect. FDH is characterized by ectodermal and mesodermal malformations. It is thought to be lethal in males; however, males may survive as mosaics or possibly as Klinefelter syndrome (XXY). When mosaicism involves the gonads the disease may be transmitted from father to child. In females, the abnormal phenotype is...

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Identifiers

PMID: 8641884
DOI: 10.1007/s001050050338

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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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