Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.

Autor: Odeh O; Department of Medicine, Faculty of Medicine, The University of Jordan, Amman., Barqawi T; Department of Medicine, Faculty of Medicine, The University of Jordan, Amman., Rashid H; Department of Medicine, Faculty of Medicine, The University of Jordan, Amman., Almashhdi S; Department of Medicine, Faculty of Medicine, The University of Jordan, Amman., Shboul M; Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan.
Jazyk: angličtina
Zdroj: Clinical dysmorphology [Clin Dysmorphol] 2022 Jul 01; Vol. 31 (3), pp. 157-161. Date of Electronic Publication: 2022 Mar 07.
DOI: 10.1097/MCD.0000000000000415
Databáze: MEDLINE