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

Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phospho-peptides. There...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776937/
https://www.ncbi.nlm.nih.gov/pubmed/36553323
http://dx.doi.org/10.3390/children9121879

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