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Review

Molecular Genetics of Microcephaly Primary Hereditary: An Overview

Department of Molecular Biology & Genetics, Democritus University of Thrace, 68100 Alexandroupolis, Greece
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Author to whom correspondence should be addressed.
Equal contribution.
Academic Editor: Marianthi Georgitsi
Brain Sci. 2021, 11(5), 581; https://doi.org/10.3390/brainsci11050581
Received: 31 March 2021 / Revised: 26 April 2021 / Accepted: 27 April 2021 / Published: 30 April 2021
MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability. Patients have small brains, though with overall normal architecture; therefore, studying MCPH can reveal not only the pathological mechanisms leading to this condition, but also the mechanisms operating during normal development. MCPH is genetically heterogeneous, with 27 genes listed so far in the Online Mendelian Inheritance in Man (OMIM) database. In this review, we discuss the role of MCPH proteins and delineate the molecular mechanisms and common pathways in which they participate. View Full-Text
Keywords: microcephaly; MCPH; MCPH1–MCPH27; molecular genetics; cell cycle microcephaly; MCPH; MCPH1–MCPH27; molecular genetics; cell cycle
MDPI and ACS Style

Siskos, N.; Stylianopoulou, E.; Skavdis, G.; Grigoriou, M.E. Molecular Genetics of Microcephaly Primary Hereditary: An Overview. Brain Sci. 2021, 11, 581. https://doi.org/10.3390/brainsci11050581

AMA Style

Siskos N, Stylianopoulou E, Skavdis G, Grigoriou ME. Molecular Genetics of Microcephaly Primary Hereditary: An Overview. Brain Sciences. 2021; 11(5):581. https://doi.org/10.3390/brainsci11050581

Chicago/Turabian Style

Siskos, Nikistratos, Electra Stylianopoulou, Georgios Skavdis, and Maria E. Grigoriou. 2021. "Molecular Genetics of Microcephaly Primary Hereditary: An Overview" Brain Sciences 11, no. 5: 581. https://doi.org/10.3390/brainsci11050581

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