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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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Bibliografski detalji
Izdano u:Iran J Public Health
Glavni autori: BAZGIR, Afsaneh, AGHA GHOLIZADEH, Mehdi, SARVAR, Faezeh, PAKZAD, Zahra
Format: Artigo
Jezik:Inglês
Izdano: Tehran University of Medical Sciences 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961191/
https://ncbi.nlm.nih.gov/pubmed/31970108
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