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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

Papers overview

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2020
2020
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree… 
2019
2019
WDR62 mutations that result in protein loss, truncation or single amino-acid substitutions are causative for human microcephaly… 
Review
2019
Review
2019
  • Melinda ZomborT. Kalmár László Sztriha
  • Journal of Applied Genetics
  • 2019
  • Corpus ID: 256082091
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth… 
2016
2016
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
BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth… 
Highly Cited
2010
Highly Cited
2010
Highly Cited
2000
Highly Cited
2000
Primary autosomal recessive microcephaly is a clinical diagnosis of exclusion in an individual with a head circumference >/=4 SDs… 
Highly Cited
1999
Highly Cited
1999
To the Editor: Microcephaly is a condition in which the head circumference is smaller than <3 SD below the mean for age…