A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature

field_of_study

Medicine

university

Islamic University of Gaza

authors

Zeineddin, S.; Matar, G.; Abosaif, Y.; Abunada, M.; Aldabbour, B.

authors_full_names

Zeineddin, Safaa (59351319000); Matar, Ghadeer (57215644472); Abosaif, Yasmin (59351404200); Abunada, Mohamed Ibrahim (58266141700); Aldabbour, Belal A. (57204167293)

authors_id

59351319000; 57215644472; 59351404200; 58266141700; 57204167293

year

2024

source_title

BMC Neurology

article_title

A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature

volume

24

issue

1

publisher

BioMed Central Ltd

article_number

367

affiliations

Faculty of Medicine, Islamic University of Gaza, Gaza, Palestine

authors_with_affiliations

Zeineddin, Safaa, Faculty of Medicine, Islamic University of Gaza, Gaza, Palestine; Matar, Ghadeer, Faculty of Medicine, Islamic University of Gaza, Gaza, Palestine; Abosaif, Yasmin, Faculty of Medicine, Islamic University of Gaza, Gaza, Palestine; Abunada, Mohamed Ibrahim, Faculty of Medicine, Islamic University of Gaza, Gaza, Palestine; Aldabbour, Belal A., Faculty of Medicine, Islamic University of Gaza, Gaza, Palestine

corresponding_author

B. Aldabbour; Faculty of Medicine, Islamic University of Gaza, Gaza, P.O. Box 108, Palestine; email: belal90md@gmail.com

cited_by

0

doi

10.1186/s12883-024-03868-w