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Article

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

Taiwanese journal of obstetrics & gynecology - 1 Sept 2021

Tran Thinh Huy, Diep Quang Minh, Cao My Ha, Luong Long Hoang, Pham Van Anh, Lan Dinh Oanh Thi, Bui The-Hung, Van Ta Thanh, Tran Van Khanh

Abstract excerpt

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 by genetic testing can confirm these cases and allow for effective genetic counseling, especially a family with a...

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PMID: 34507672
DOI: 10.1016/j.tjog.2021.07.022

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