1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the pati...

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Detalles Bibliográficos
Autores principales: Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2016
Materias:
Special Series of Articles - 60 Years of The Brazilian Society of Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004838/
https://www.ncbi.nlm.nih.gov/pubmed/27561113
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004838/
https://www.ncbi.nlm.nih.gov/pubmed/27561113
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0049

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