Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family

• Main Authors: Thinh Huy Tran (Author), Quang Minh Diep (Author), My Ha Cao (Author), Long Hoang Luong (Author), Van Anh Pham (Author), Oanh Thi Lan Dinh (Author), The-Hung Bui (Author), Thanh Van Ta (Author), Van Khanh Tran (Author)
• פורמט: ספר
• יצא לאור: Elsevier, 2021-09-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Objective: MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minimal prenatal presentations, only prenatal diagnosis...