A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report

A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report

Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder, leading to the defect of neurogenic brain development. Individuals with MCPH reveal reduced head circumference and intellectual disability. Several MCPH loci have been identified from several populations. Genetic heterogene...

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Bibliographic Details
Main Authors: Afsaneh BAZGIR, Mehdi AGHA GHOLIZADEH, Faezeh SARVAR, Zahra PAKZAD
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2019-11-01
Series:Iranian Journal of Public Health
Subjects:
Autosomal recessive primary microcephaly
ASPM
Whole exome sequencing
Online Access:https://ijph.tums.ac.ir/index.php/ijph/article/view/18855

Internet

https://ijph.tums.ac.ir/index.php/ijph/article/view/18855

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