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Article

Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.

Dermatology online journal - 15 Oct 2020

Batista Mariana, Morgado Francisca, Cardoso José Carlos, Moreno Ana, Ramos Leonor

Abstract excerpt

Conradi-Hünermann-Happle Syndrome, also called X-linked rhizomelic chondrodysplasia punctata, is a rare genodermatosis that presents with cutaneous, skeletal, and ophthalmological abnormalities. Herein, we report a full-term newborn that presented at birth with scattered blaschkolinear bands of adherent scales and scalp erosions in a spiral distribution. Genetic analysis of emopamil-binding protein gene revealed...

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PMID: 33147667

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Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.PMID 33147667Read ↗

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