8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

Abstract Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only candidate gene implicated in the ocular findings....

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Autores principales: Ikhlas Ben Ayed, Amal Bouzid, Fatma Kammoun, Amal souissi, Olfa Jallouli, Salma Mallouli, Souhir Guidara, Salma Loukil, Hajer Aloulou, Fida Jbeli, Sahar Aouichaoui, Dorra Abid, Fatma Abdelhedi, Chahnez Triki, Hassen Kamoun, Saber Masmoudi
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
8q21.11 microdeletion syndrome
cardiac defect
comparative genomic hybridization
HEY1
intellectual disability
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/a21fb15130e34021bb3464c79a22b09f
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https://doaj.org/article/a21fb15130e34021bb3464c79a22b09f

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