2023
DOI: 10.3389/fped.2023.1211254
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Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

Ayca Ceylan,
Ilyas Emre Tekdemir,
Nadir Kocak
et al.

Abstract: 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 developmental delay was evaluated for immunodeficiency due to recurrent respiratory infections diarrhea and oral moniliasis from the age of 1.5 months. He had facial dysmorphism with rotated ears, flat nose and hyp… Show more

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