Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
about
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationGenotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.
P2860
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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name
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@en
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@nl
type
label
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@en
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@nl
prefLabel
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@en
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@nl
P2093
P2860
P356
P1476
Novel association of neurofibr ...... ofibromatosis-Noonan syndrome.
@en
P2093
Anders Jonzon
Göran Annerén
Kerstin Sjörs
Marie-Louise Bondeson
Sara Ekvall
P2860
P304
P356
10.1002/AJMG.A.36313
P407
P577
2013-12-19T00:00:00Z