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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Publicado en:Iran J Public Health
Autores principales: BAZGIR, Afsaneh, AGHA GHOLIZADEH, Mehdi, SARVAR, Faezeh, PAKZAD, Zahra
Formato: Artigo
Lenguaje:Inglês
Publicado: Tehran University of Medical Sciences 2019
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961191/
https://ncbi.nlm.nih.gov/pubmed/31970108
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