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Autosomal Recessive Primary Microcephaly

Known as: Microcephaly Primary Hereditary, Primary Autosomal Recessive Microcephaly, True Microcephaly 
National Institutes of Health

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Microcephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Primary microcephaly caused by novel compound heterozygous mutations in ASPM
Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare… 
2014
2014
The role of CDK5RAP2 in autosomal recessive primary microcephaly (MCPH)
2013
2013
A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
Objective Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with… 
2013
2013
Molecular genetic and cytogenetic analyses of autosomal recessive primary microcephaly (MCPH)
2011
2011
A Linkage Study in 8 Pakistani Families Segregating as Autosomal Recessive Primary Microcephaly
The current study was designed to find the most frequent MCPH phenotype in inbred Pakistani families. Primary microcephaly is… 
2010
2010
Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly
Absence of Microcephalin Gene Mutations in a Large Cohort of Non-Consanguineous Patients With Autosomal Recessive Primary… 
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