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MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)

Known as: MCPH2, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS 
National Institutes of Health

Related topics

Related topics

18 relations
Aggressive behaviorAutosomal recessive inheritanceDecreased fetal movementEctopic Tissue

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A case report of microcephaly and refractory West syndrome associated with WDR62 mutation
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree… 
2019
2019
The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
WDR62 mutations that result in protein loss, truncation or single amino-acid substitutions are causative for human microcephaly… 
Review
2019
Review
2019
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth… 
2018
2018
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability
2016
2016
Novel splice‐site mutation in WDR62 revealed by whole‐exome sequencing in a Sudanese family with primary microcephaly
The WDR62 gene encodes a scaffold protein of the c‐Jun N‐terminal kinase (JNK) pathway. It plays a critical role in laying out… 
2013
2013
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth… 
Highly Cited
2010
Highly Cited
2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Highly Cited
2000
Highly Cited
2000
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
Primary autosomal recessive microcephaly is a clinical diagnosis of exclusion in an individual with a head circumference >/=4 SDs… 
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