Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

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http://www.wikidata.org/entity/Q47280110
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeSOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsGenotype differences in cognitive functioning in Noonan syndrome.Mutation-Specific Mechanisms of Hyperactivation of Noonan Syndrome SOS Molecules Detected with Single-molecule Imaging in Living Cells.A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways.BRAF gene deletion broadens the clinical spectrum neuro-cardio-facial-cutaneous syndromes.Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.Chronic pain in Noonan Syndrome: A previously unreported but common symptom.Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
P2860

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Item
http://www.wikidata.org/entity/Q47280110
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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name
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@en
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@nl
type
label
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@en
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@nl
prefLabel
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@en
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Clinical manifestations in pat ...... onan syndrome to CFC syndrome.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698