Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations

• Main Authors: B. Zirn (Author), U. Bernbeck (Author), K. Alt (Author), F. Oeffner (Author), A. Gerhardinger (Author), C. Has (Author)
• Formato: Livro
• Publicado em: Wiley, 2021-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Rare syndromic skin disorders may represent a diagnostic challenge. Aims We report a unique case associating cutaneous manifestations and developmental delay. Materials & Methods The affected 14 months old boy had poikiloderma, facial dysmorphism with deep‐set eyes, atrichia,...