Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation-Reference-Cited by-同舟云学术

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Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

Published:2014-10-20 Issue:12 Volume:164 Page:3120-3125
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Baldassarre Giuseppina¹,Mussa Alessandro¹,Banaudi Elena²,Rossi Cesare³,Tartaglia Marco⁴,Silengo Margherita¹,Ferrero Giovanni Battista¹

Affiliation:

1. Department of Paediatrics; University of Torino; Torino Italy

2. Department of Cardiology; Regina Margherita Children's Hospital; Torino Italy

3. Department of Medical Genetics; Policlinico S. Orsola-Malpighi; Bologna Italy

4. Department of Haematology; Oncology and Molecular Medicine; Istituto Superiore di Sanità; Roma Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK Pathway syndrome;Aoki;Am J Hum Genet,2013

2. Prenatal features of Noonan syndrome: Prevalence and prognostic value;Baldassarre;Prenat Diagn,2011

3. Comment on “Prenatal diagnosis and prognosis in Noonan syndrome;Baldassarre;Prenat Diagn,2013

4. Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient;Bertola;Am J Med Genet A,2005

5. Clinical heterogeneity in two patients with Noonanlike syndrome associated with the same SHOC2 mutation;Capalbo;Ital J Pediatr,2012

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1. The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway;Human Molecular Genetics;2024-06-17

2. Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant;American Journal of Case Reports;2023-11-21

3. Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair;Frontiers in Genetics;2022-12-09

4. Central nervous system involvement in individuals with RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12

5. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients;European Journal of Pediatrics;2022-07-29

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