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MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
Known as:
MCPH4
, Microcephaly, Primary Autosomal Recessive, 4
National Institutes of Health
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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
M. Takimoto
Congenital anomalies
2017
Corpus ID: 37703418
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro‐developmental disease with brain size reduction. More than a…
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Highly Cited
2010
Highly Cited
2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
D. Guernsey
,
Haiyan Jiang
,
+21 authors
M. Samuels
American journal of human genetics
2010
Corpus ID: 13504869
Highly Cited
2010
Highly Cited
2010
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
H. Darvish
,
S. Esmaeeli-Nieh
,
+23 authors
H. Najmabadi
Journal of Medical Genetics
2010
Corpus ID: 16367332
Background Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance…
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Highly Cited
2002
Highly Cited
2002
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
E. Roberts
,
D. Hampshire
,
+8 authors
C. Woods
Journal of medical genetics
2002
Corpus ID: 24123971
Background and objectives: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date…
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Highly Cited
1999
Highly Cited
1999
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.
C. Jamieson
,
C. Govaerts
,
M. Abramowicz
American journal of human genetics
1999
Corpus ID: 5645602
To the Editor: Microcephaly is a condition in which the head circumference is smaller than <3 SD below the mean for age…
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