Article
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Journal of medical genetics - 1 Dec 2010
Darvish H, Esmaeeli-Nieh S, Monajemi G B, Mohseni M, Ghasemi-Firouzabadi S, Abedini S S, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi M J, Ghani M, Ghani-Kakhi M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers H H, Kuss A W, Behjati F, Kahrizi K, Najmabadi H
Abstract excerpt
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 been identified so...
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