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

  • Author(s): Batista, Mariana;
  • Morgado, Francisca;
  • Cardoso, José Carlos;
  • Moreno, Ana;
  • Ramos, Leonor
  • et al.
Abstract

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 a previously undescribed heterozygous mutation of c.333delC.

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