Constitutional bone impairment in Noonan syndrome.

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Constitutional bone impairment in Noonan syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Constitutional bone impairment in Noonan syndrome.

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Constitutional bone impairment in Noonan syndrome.

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Constitutional bone impairment in Noonan syndrome.

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Constitutional bone impairment in Noonan syndrome.

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Constitutional bone impairment in Noonan syndrome.

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Constitutional bone impairment in Noonan syndrome.

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P1476

Constitutional bone impairment in Noonan syndrome.

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P2093

Cristina Molinatto

http://www.w3.org/2001/XMLSchema#string

Giuseppina Baldassarre

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P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

The RASopathies

A restricted spectrum of NRAS mutations causes Noonan syndrome

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Germline mutations in HRAS proto-oncogene cause Costello syndrome

P304

692-698

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P31

scholarly article

P356

10.1002/AJMG.A.38086

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P407

English

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P478

173

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Diana Carli

Alessandro Mussa

G B Ferrero

P577

2017-03-01T00:00:00Z

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P698

28211980

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