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MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE

Known as: MCPH4, Microcephaly, Primary Autosomal Recessive, 4 
 
National Institutes of Health

Related topics

Related topics

2 relations
Autosomal recessive inheritance

Broader (1)

Microcephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
D40/KNL1/CASC5 and autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro‐developmental disease with brain size reduction. More than a… Expand
Highly Cited
2010
Highly Cited
2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities… Expand
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Highly Cited
2010
Highly Cited
2010
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
Background Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance… Expand
Highly Cited
2002
Highly Cited
2002
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
Background and objectives: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date… Expand
Highly Cited
1999
Highly Cited
1999
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.
To the Editor: Microcephaly is a condition in which the head circumference is smaller than <3 SD below the mean for age… Expand
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