Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene
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...
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Published in | Molecular syndromology Vol. 13; no. 1; pp. 56 - 63 |
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Main Authors | , |
Format | Journal Article |
Language | English |
Published |
Basel, Switzerland
S. Karger AG
01.02.2022
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Subjects | |
Online Access | Get full text |
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