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

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...

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Hlavní autoři:	Thinh Huy Tran, Quang Minh Diep, My Ha Cao, Long Hoang Luong, Van Anh Pham, Oanh Thi Lan Dinh, The-Hung Bui, Thanh Van Ta, Van Khanh Tran
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2021-09-01
Edice:	Taiwanese Journal of Obstetrics & Gynecology
Témata:	Microcephaly primary hereditary ASPM MCPH5 Exome sequencing
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1028455921001947
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