The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype-Reference-Cited by-同舟云学术

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype

Published:2017-02-17 Issue:3 Volume:173 Page:824-828
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bertola Débora¹²,Yamamoto Guilherme¹²,Buscarilli Michelle¹,Jorge Alexander³,Passos-Bueno Maria Rita²,Kim Chong¹

Affiliation:

1. Unidade de Genética Clínica; Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

2. Instituto de Biociências da Universidade de São Paulo; São Paulo Brazil

3. Unidade de Endocrinologia Genética; LIM/25 do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

Funder

São Paulo Research Foundation

CEPID

CNPq

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature;Addissie;Am J Med Genet Part A,2015

2. Recent advances in RASopathies;Aoki;J Hum Genet,2016

3. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009

4. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair;Gripp;Am J Med Genet Part A,2016

5. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis;Gripp;Am J Med Genet Part A,2013

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