Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity?

• Główni autorzy: Sebla Güneş (Autor), Jiangping Wu (Autor), Berk Özyılmaz (Autor), Reyhan Deveci Sevim (Autor), Tolga Ünüvar (Autor), Ahmet Anık (Autor)
• Format: Książka
• Wydane: MDPI AG, 2022-12-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (<i>EFNB1</i>) gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip,...