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

• Główni autorzy: B. Zirn (Autor), U. Bernbeck (Autor), K. Alt (Autor), F. Oeffner (Autor), A. Gerhardinger (Autor), C. Has (Autor)
• Format: Książka
• Wydane: Wiley, 2021-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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,...