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Article

Clinical and pathologic correlations in genetically distinct forms of atrichia.

Archives of dermatology - 1 Dec 2003

Zlotogorski Abraham, Hochberg Ze'ev, Mirmirani Paradi, Metzker Arye, Ben-Amitai Dan, Martinez-Mir Amalia, Panteleyev Andrey A, Christiano Angela M

Abstract excerpt

BACKGROUND: The genetic basis of 2 distinct forms of atrichia with papules has recently been defined at the molecular level. In atrichia with papular lesions (APL; Online Mendelian Inheritance in Man [OMIM] 209500), mutations in the hairless gene on chromosome 8p21 have recently been identified. Atrichia with papules also occurs in the clinical setting of vitamin D-dependent rickets type IIA (VDDR IIA; OMIM...

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PMID: 14676077
DOI: 10.1001/archderm.139.12.1591

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VDR

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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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Clinical and pathologic correlations in genetically distinct forms of atrichia.PMID 14676077Read ↗

Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.Semantic proximity Read ↗

Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular LesionsSemantic proximity Read ↗

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Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.Semantic proximity Read ↗

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