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Keywords: 5q14.3q21.1 deletion
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Journal Articles
Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
Available to PurchaseSubject Area:
Genetics
Liliana Fernández Hernández, Miguel A. Alcántara Ortigoza, Sandra E. Ramos Angeles, Ariadna González-del Angel
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2021) 161 (12): 556–563.
Published Online: 12 January 2022
... disorder characterized by intellectual disability, epilepsy, hypotonia, brain malformations, and variable facial dysmorphism. Almost all 5q14.3 deletions involve MEF2C (MIM*600662) as the critical gene responsible for the phenotype. 5q14.3q21.1 deletion Bilateral cleft-lip palate MEF2C...
