STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
about
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.STIL balancing primary microcephaly and cancer.Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
P2860
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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2014年论文
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name
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
@en
type
label
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
@en
prefLabel
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
@en
P2093
P2860
P50
P1433
P1476
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
@en
P2093
Deborah J Morris-Rosendahl
Gotthold Barbi
Guntram Borck
Jamil Ahmad
Janine Altmüller
Katrin Friedrich
Naseebullah Kakar
P2860
P2888
P356
10.1007/S00439-014-1487-4
P577
2014-09-14T00:00:00Z
P6179
1035169388