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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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Dettagli Bibliografici
Pubblicato in:Iran J Public Health
Autori principali: BAZGIR, Afsaneh, AGHA GHOLIZADEH, Mehdi, SARVAR, Faezeh, PAKZAD, Zahra
Natura: Artigo
Lingua:Inglês
Pubblicazione: Tehran University of Medical Sciences 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961191/
https://ncbi.nlm.nih.gov/pubmed/31970108
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