Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

De novo heterozygous mutations in HRAS cause Costello syndrome (CS), a condition with high mortality and morbidity in infancy and early childhood due to cardiac, respiratory, and muscular complications. HRAS mutations predicting p.Gly12Val, p.Gly12Asp, and p.Gly12Cys substitutions have been associat...

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Publicado en:Am J Med Genet A
Autores principales: Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn
Formato: Artigo
Lenguaje:Inglês
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
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Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4495255/
https://ncbi.nlm.nih.gov/pubmed/22495892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35296
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