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...

Cijeli opis

Bibliografski detalji

Glavni autori:	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
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2021-09-01
Serija:	Taiwanese Journal of Obstetrics & Gynecology
Teme:	Microcephaly primary hereditary ASPM MCPH5 Exome sequencing
Online pristup:	http://www.sciencedirect.com/science/article/pii/S1028455921001947
Oznake:	Dodaj oznaku Bez oznaka, Budi prvi tko označuje ovaj zapis!