Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation-Reference-Cited by-同舟云学术

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation

Published:2017-07 Issue:7 Volume:60 Page:395-398
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Quélin Chloé,Loget Philippe,Rozel Céline,D'Hervé Dominique,Fradin Mélanie,Demurger Florence,Odent Sylvie,Pasquier Laurent,Cavé Hélène,Marcorelles Pascale

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference10 articles.

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

2. Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation;Bolocan;Neuromuscul. Disord.,2014

3. Myopathology in patients with a Noonan phenotype;De Boode;Acta Neuropathol.,1996

4. Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val;Burkitt-Wright;Am. J. Med. Genet. A,2012

5. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations;Gripp;Genet. Med.,2012

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1. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06

2. A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita;Genes;2021-07-08

3. Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review;Molecular Genetics & Genomic Medicine;2021-05

4. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome;The American Journal of Human Genetics;2019-06

5. Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation;Clinical Dysmorphology;2019-04