Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
about
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
P2860
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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2015年學術文章
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name
Homozygous FIBP nonsense varia ...... oma and learning disabilities.
@en
Homozygous FIBP nonsense varia ...... oma and learning disabilities.
@nl
type
label
Homozygous FIBP nonsense varia ...... oma and learning disabilities.
@en
Homozygous FIBP nonsense varia ...... oma and learning disabilities.
@nl
prefLabel
Homozygous FIBP nonsense varia ...... oma and learning disabilities.
@en
Homozygous FIBP nonsense varia ...... oma and learning disabilities.
@nl
P2093
P2860
P356
P1433
P1476
Homozygous FIBP nonsense varia ...... boma and learning disabilities
@en
P2093
C Champilou
C Thauvin-Robinet
J-B Rivière
L Duplomb-Jego
P2860
P356
10.1111/CGE.12704
P577
2016-01-20T00:00:00Z