Phenotypic variability associated with the invariantSHOC2c.4A&gt;G (p.Ser2Gly) missense mutation (Q58881420)

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21 February 2020

title

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation (English)

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21 February 2020

2

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21 February 2020

C Rossi

4

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21 February 2020

Marco Tartaglia

5

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Giovanni Battista Ferrero

21 February 2020

7

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21 February 2020

author name string

Giuseppina Baldassarre

1

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21 February 2020

Elena Banaudi

3

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21 February 2020

Margherita Silengo

6

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21 February 2020

language of work or name

English

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publication date

20 October 2014

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American Journal of Medical Genetics

21 February 2020

published in

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21 February 2020

volume

164A

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21 February 2020

issue

12

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21 February 2020

page(s)

3120-3125

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

21 February 2020

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Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

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Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

21 January 2018

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

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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

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A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

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Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

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Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

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Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

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Noonan-like syndrome with loose anagen hair: a new syndrome?

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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

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A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

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Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

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Clinical and molecular analysis of RASopathies in a group of Turkish patients

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Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

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Noonan syndrome and clinically related disorders

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Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

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IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

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Coarctation of the aorta in Noonan-like syndrome with loose anagen hair

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36697

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331583%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

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