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

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. In this...

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Detalles Bibliográficos
Autores principales: Ben Ayed, Ikhlas, Bouzid, Amal, Kammoun, Fatma, souissi, Amal, Jallouli, Olfa, Mallouli, Salma, Guidara, Souhir, Loukil, Salma, Aloulou, Hajer, Jbeli, Fida, Aouichaoui, Sahar, Abid, Dorra, Abdelhedi, Fatma, Triki, Chahnez, Kamoun, Hassen, Masmoudi, Saber
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606210/
https://www.ncbi.nlm.nih.gov/pubmed/34549899
http://dx.doi.org/10.1002/mgg3.1811

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606210/
https://www.ncbi.nlm.nih.gov/pubmed/34549899
http://dx.doi.org/10.1002/mgg3.1811

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