An Alu-mediated 1Mb deletion removes Wilms’ tumor 1 (WT1) but not PAX6 in a patient with isolated cryptorchidism

Objective: We have recently performed an array-based genome-wide analysis of structural variants in a cohort of patients with non-obstructive azoospermia (NOA) and found a cryptic deletion of approximately 1Mb in 11p13, spanning the WT1 gene but not PAX6, in a Portuguese patient with clinical histor...

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Detalhes bibliográficos
Autor principal: Seabra, Catarina (author)
Outros Autores: Quental, Sofia (author), Neto, Ana (author), Carvalho, Filipa (author), Gonçalves, João (author), Fernandes, Susana (author), Sousa, Mário (author), Barros, Alberto (author), Amorim, António (author), Lopes, Alexandra M (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2014
Assuntos:
WT1
Wilms' tumor
Cryptorchidism
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/2170
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2170

Texto Completo

http://hdl.handle.net/10400.18/2170

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