Thieme E-Books & E-Journals -
Zurück
Journal of Pediatric Neurology 2023; 21(01): 058-061
DOI: 10.1055/s-0042-1759516
Review Article

Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics

Caterina Cuppari
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Annamaria Salpietro
2   Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy
,
3   Faculty of Medicine and Surgery, University of Messina, Messina, Italy
,
Laura Colavita
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Maria Domenica Ceravolo
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Eloisa Gitto
4   Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age Gaetano Barresi, University of Messina, Messina, Italy
,
Alessia Sallemi
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Monica Fusco
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Ida Ceravolo
5   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Giovanni Farello
6   Pediatric Clinic, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila (AQ), Italy
,
Giulia Iapadre
7   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Clarissa Rocca
8   Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
,
Ainara Salazar
8   Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
,
Alessio Mancuso
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
› Institutsangaben