A 1.77 Mb deletion in 3p26.3 encompassing CNTN6 and CNTN4 genes: case report

Chromosome microarray analysis is a powerful diagnostic tool and is being used as a first-line approach to detect chromosome imbalances associated with intellectual disability, dysmorphic features and congenital abnormalities. This test enables the identification of new copy number variants (CNVs) a...

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Bibliographic Details
Main Author: Brito, Filomena (author)
Other Authors: Marques, Bárbara (author), Pedro, Sónia (author), Serafim, Silvia (author), Gonçalves, Rui (author), Freixo, João (author), Correia, Hildeberto (author)
Format: conferenceObject
Language:eng
Published: 2016
Subjects:
Intellectual Disability
3p26.3 Deletion
CNTN6 gene
CNTN4 gene
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/3926
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3926

Internet

http://hdl.handle.net/10400.18/3926

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