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
利用新一代测序技术（NGS）产前鉴定与常染色体隐性遗传原发性小头畸形（MCPH）相关的MCPH1基因新突变：病例报告及文献综述
期刊:Children-Basel
影响因子:2.1
doi:10.3390/children9121879
Papoulidis, Ioannis; Eleftheriades, Makarios; Manolakos, Emmanouil; Petersen, Michael B; Liappi, Simoni Marina; Konstantinidou, Anastasia; Papamichail, Maria; Papadopoulos, Vassilios; Garas, Antonios; Sotiriou, Sotirios; Papastefanou, Ioannis; Daskalakis, Georgios; Ristic, Aleksandar
