Craniofacial Phenotypes and Genetics of DiGeorge Syndrome

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome

The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS/VCFS are associated with prevalent cardia...

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Bibliographic Details
Main Author: Noriko Funato
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Journal of Developmental Biology
Subjects:
22q11.2 deletion syndrome
DiGeorge syndrome
velocardiofacial syndrome
cleft palate
skull base
cleidocranial dysplasia
Online Access:https://www.mdpi.com/2221-3759/10/2/18

Internet

https://www.mdpi.com/2221-3759/10/2/18

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