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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.
Papoulidis I, Eleftheriades M, Manolakos E, Petersen MB, Liappi SM, Konstantinidou A, Papamichail M, Papadopoulos V, Garas A, Sotiriou S, Papastefanou I, Daskalakis G, Ristic A. Papoulidis I, et al. Among authors: liappi sm. Children (Basel). 2022 Nov 30;9(12):1879. doi: 10.3390/children9121879. Children (Basel). 2022. PMID: 36553323 Free PMC article.