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Article

Conradi-Hünermann-Happle syndrome.

Dermatology online journal - 15 Nov 2010

Hartman Rachael D, Molho-Pessach Vered, Schaffer Julie V

Abstract excerpt

A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of...

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Source

Identifiers

PMID: 21163155

Genes

EBP

Provenance

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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