FAQ

MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE

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

Topic mentions per year

Topic mentions per year

1999-2017
01219992017

Related topics

Related topics

2 relations
Autosomal recessive inheritance

Broader (1)

Microcephaly

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
Autosomal recessive inheritance
Microcephaly

Papers overview

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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… (More)
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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… (More)
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2010
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… (More)
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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… (More)
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1999
1999
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.
 
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