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

• Main Authors: Ayca Ceylan (Author), Ilyas Emre Tekdemir (Author), Nadir Kocak (Author), Ivan Kingyue Chinn (Author), Jordan Scott Orange (Author), Hasibe Artac (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...