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Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1

Clin Exp Pediatr > Accepted Articles
DOI: https://doi.org/10.3345/cep.2025.00360    [Accepted]
Published online May 12, 2025.
Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1
Manuela Lo Bianco1  , Federica Sipala2, Xena Giada Pappalardo3,4, Gaia Fusto3, Roberta Rizzo5, Federico Favata6, Carla Cimino7, Silvia Marino8, Martino Ruggieri1, Agnese Suppiej9, Simone Ronsisvalle2, Raffaele Falsaperla9 
1Unit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, AOU Policlinico, PO G. Rodolico, via S. Sofia, 78, 95124, Catania, Italy, Catania, Italy
2Department of Drug Sciences, University of Catania, 95123 Catania, Italy, Catania, Italy
3Dept. of Biomedical and Biotechnological Sciences (BIOMETEC), Section of Pharmacology, University of Catania, 95123 Catania, Italy;, Catania, Italy
4National Council of Research, Institute for Research and Biomedical Innovation (IRIB), Unit of Catania, 95126 Catania, Italy, Catania, Italy
5Endocrinology Section, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, via Palermo 636, 95122 Catania, Italy;, Catania, Italy
6Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy., Catania, Italy
7Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico Rodolico-San Marco, San Marco Hospital, University of Catania, 95123 Catania, Italy, Catania, Italy
8Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico Rodolico-San Marco, San Marco Hospital, 95123 Catania, Italy, Catania, Italy
9Department of Medical Science-Pediatrics, University of Ferrara, Ferrara, Italy, Ferrara, Italy
Correspondence: 
Raffaele Falsaperla, Email: raffaele.falsaperla@unife.it
Received: 9 February 2025   • Revised: 3 April 2025   • Accepted: 21 April 2025


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