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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Detalles Bibliográficos
Autores principales: Ceylan, Ayca, Tekdemir, Ilyas Emre, Kocak, Nadir, Chinn, Ivan Kingyue, Orange, Jordan Scott, Artac, Hasibe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373501/
https://www.ncbi.nlm.nih.gov/pubmed/37520055
http://dx.doi.org/10.3389/fped.2023.1211254

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373501/
https://www.ncbi.nlm.nih.gov/pubmed/37520055
http://dx.doi.org/10.3389/fped.2023.1211254

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