A case of Bardet‑Biedl syndrome caused by a recurrent variant in BBS12: A case report
Affiliations: Department of Medical Genetics, University of Medicine and Pharmacy ‘Carol Davila’, 021901 Bucharest, Romania, Department of Pediatric Neurology, ‘Prof. Dr. Alexandru Obregia’ Clinical Hospital of Psychiatry, 041914 Bucharest, Romania, National Institute for Biotechnology and Genetic Engineering (NIBGE‑C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences, Islamabad 38000, Pakistan, Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA, Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA, Department of Pediatrics and Pediatric Nephrology, Emergency Clinical Hospital for Children ‘Maria Skłodowska Curie’, 077120 Bucharest, Romania
- Published online on: October 21, 2021 https://doi.org/10.3892/br.2021.1479
- Article Number: 103
Copyright: © Focșa et al. This is an open access article distributed under the terms of Creative Commons Attribution License.