Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
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The genetics of cerebellar malformationsHomozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasisTubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient.The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation
P2860
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P2860
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
@zh-cn
name
Variable brain phenotype prima ...... ed by recessive WNT1 mutations
@en
type
label
Variable brain phenotype prima ...... ed by recessive WNT1 mutations
@en
prefLabel
Variable brain phenotype prima ...... ed by recessive WNT1 mutations
@en
P2093
P2860
P1476
Variable brain phenotype prima ...... ed by recessive WNT1 mutations
@en
P2093
Brian Hy Chung
Bridget Fernandez
Cynthia J Curry
Daniel H Cohn
Kimberly A Aldinger
Nancy J Mendelsohn
Wenjuan Zhang
P2860
P304
P356
10.1136/JMEDGENET-2015-103476
P407
P577
2015-12-15T00:00:00Z