Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.

Autor:	Al-Aama JY; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Zahrani HS; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Jelani M; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Sabir HS; Pediatric Radiology Unit, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Al-Saeedi SA; Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Ahmed S; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Congenital anomalies [Congenit Anom (Kyoto)] 2018 Jan; Vol. 58 (1), pp. 39-40. Date of Electronic Publication: 2017 Mar 29.
DOI:	10.1111/cga.12217
Databáze:	MEDLINE
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