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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
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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
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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
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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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