Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene

• Published in: Molecular syndromology Vol. 13; no. 1; pp. 56 - 63
• Main Authors: Türkyılmaz, Ayberk, Sager, Safiye Gunes
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.02.2022
• Subjects: Novel Insights from Clinical Practice; Polymicrogyria; ASPM; Pachygyria; Novel variant; Whole-exome sequencing

Abstract Autosomal recessive primary microcephaly (MCPH) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 SD. MCPH is a group of diseases with genetic heterogeneity and has been reported by the Online Mendeli...