A case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype.

Autor: Mulayim MF; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara., Demirbas MH; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara.; Department of Medical Genetics, Elazig Fethi Sekin City Hospital, Elazig., Percin FE; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara.; GENTAN Genetic Disease Evaluation Center, Izmir., Arhan E; Department of Pediatric Neurology, Faculty of Medicine, Gazi University, Ankara, Turkey., Kayhan G; Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara.
Jazyk: angličtina
Zdroj: Clinical dysmorphology [Clin Dysmorphol] 2024 Oct 01; Vol. 33 (4), pp. 171-175. Date of Electronic Publication: 2024 Jun 04.
DOI: 10.1097/MCD.0000000000000505
Databáze: MEDLINE