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

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

Abstract 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...

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Bibliographic Details
Main Authors: Natália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, Heloisa Barbosa Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos Bacino, Bruno Delobel, Paul James, Ann-Charlotte Thuresson, Göran Annerén, Sérgio D. J. Pena
Format: Article
Language:English
Published: Sociedade Brasileira de Genética
Series:Genetics and Molecular Biology
Subjects:
1p13.2 deletion
Noonan syndrome type 6
NRAS gene
RASopathy
unmasking heterozygosity
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349&lng=en&tlng=en

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