autosomal recessive primary microcephaly

نتایج جستجو برای: autosomal recessive primary microcephaly

تعداد نتایج: 682552 فیلتر نتایج به سال:

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

Journal: :The American Journal of Human Genetics 1998

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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Journal: :Human Mutation 2018

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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Journal: :Journal of medical genetics 2010

H Darvish S Esmaeeli-Nieh G B Monajemi M Mohseni S Ghasemi-Firouzabadi S S Abedini I Bahman P Jamali S Azimi F Mojahedi A Dehghan Y Shafeghati A Jankhah M Falah M J Soltani Banavandi M Ghani M Garshasbi F Rakhshani A Naghavi A Tzschach H Neitzel H H Ropers A W Kuss F Behjati K Kahrizi H Najmabadi

BACKGROUND Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age- and sex-matched population mean, associated with mild to severe mental retardation. Five genes (MCPH1, CDK5RAP2, ASPM, CENPJ, STIL) and two genomic loci, MCPH2 and MCPH4, have b...

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Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

Journal: :The American Journal of Human Genetics 1999

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Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

2014

Marine Barbelanne William Y Tsang

Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this revi...

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