Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

Abstract Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to...

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Bibliographic Details
Main Authors: Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle, Thomas Liehr
Format: Article
Language:English
Published: SpringerOpen 2022-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
DiGeorge syndrome (DGS)
del(22)(q11.2q11.2)
Clinical features
Molecular diagnosis
Online Access:https://doi.org/10.1186/s43042-022-00374-x

Internet

https://doi.org/10.1186/s43042-022-00374-x

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