학술논문

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
Document Type
Article
Source
Children; Dec2022, Vol. 9 Issue 12, p1879, 7p
Subject
GENETIC mutation
SEQUENCE analysis
AMNIOCENTESIS
GENETIC testing
MICROCEPHALY
FETAL growth retardation
KARYOTYPES
MICROARRAY technology
CHORIONIC villus sampling
CHROMOSOME abnormalities
PREGNANCY complications
AGENESIS of corpus callosum
GENETIC counseling
GENETIC techniques
DATA analysis software
FETAL ultrasonic imaging
Language
ISSN
22279067
Abstract
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