Molecular Genetics of Microcephaly Primary Hereditary: An Overview.
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ABSTRACT:
SUBMITTER: Siskos N
PROVIDER: S-EPMC8145766 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
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Molecular Genetics of Microcephaly Primary Hereditary: An Overview.
Siskos Nikistratos N Stylianopoulou Electra E Skavdis Georgios G Grigoriou Maria E ME
Brain sciences 20210430 5
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 ...[more]
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