Behavioral phenotype in Costello syndrome with atypical mutation: A case report-Reference-Cited by-同舟云学术

Behavioral phenotype in Costello syndrome with atypical mutation: A case report

Published:2014-11-04 Issue:1 Volume:168 Page:66-71
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Alfieri Paolo¹,Caciolo Cristina¹,Piccini Giorgia¹,D'Elia Lidia¹,Valeri Giovanni¹,Menghini Deny¹,Tartaglia Marco²,Digilio Maria Cristina³,Dallapiccola Bruno³,Vicari Stefano¹

Affiliation:

1. Department of Neuroscience; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

2. Department of Hematology; Oncology and Molecular Medicine; Istituto Superiore di Sanità; Rome Italy

3. Medical Genetics; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

Funder

Italian Association of Costello and Cardiofaciocutaneous syndrome

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference36 articles.

1. Autism traits in the RASopathies;Adviento;Med Genet,2013

2. Behavioral profile in RASopathies;Alfieri;Am J Med Genet A,2014

3. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005

4. Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome;Axelrad;Am J Med Genetics,2004

5. Longitudinal assessment of cognitive characteristics in Costello syndrome;Axelrad;Am J Med Genet Part A,2007

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1. Age‐related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome;American Journal of Medical Genetics Part A;2017-04-04

2. Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations;American Journal of Medical Genetics Part A;2016-11-14

3. Perturbed proteostasis in autism spectrum disorders;Journal of Neurochemistry;2016-08-04

4. Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience;American Journal of Medical Genetics Part A;2016-05-05

5. Respiratory system involvement in Costello syndrome;American Journal of Medical Genetics Part A;2016-04-22