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 heterogenei...

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Bibliographic Details
Published in:Iran J Public Health
Main Authors: BAZGIR, Afsaneh, AGHA GHOLIZADEH, Mehdi, SARVAR, Faezeh, PAKZAD, Zahra
Format: Artigo
Language:Inglês
Published: Tehran University of Medical Sciences 2019
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961191/
https://ncbi.nlm.nih.gov/pubmed/31970108
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