Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

The presence of two different genetic conditions in the same individual is possible, especially in populations with consanguinity. In this case report, we present the coexistence of Artemis deficiency (OMIM 602450) and Three M (3M) syndrome (OMIM 273750). A 10-months-old male patient with neuromotor...

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Bibliographic Details
Main Authors: Ayca Ceylan, Ilyas Emre Tekdemir, Nadir Kocak, Ivan Kingyue Chinn, Jordan Scott Orange, Hasibe Artac
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Pediatrics
Subjects:
ARTEMIS deficiency
3M syndrome
immunodeficiency
whole-exome sequencing
coexistence of genetic disorders
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1211254/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1211254/full

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