Open AccessA case of Bardet‑Biedl syndrome caused by a recurrent variant inBBS12: A case report
Author(s) -
Ina Ofelia Focşa,
Magdalena Budișteanu,
Carmen Burloiu,
Sheraz Khan,
Azita Sadeghpour,
Laurentiu Camil Bohîlțea,
Erica E. Davis,
Mihaela Bălgrădean
Publication year - 2021
Publication title -
biomedical reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.607
H-Index - 25
eISSN - 2049-9442
pISSN - 2049-9434
DOI - 10.3892/br.2021.1479
Subject(s) - ciliopathy , bardet–biedl syndrome , cilium , polydactyly , context (archaeology) , biology , ciliopathies , joubert syndrome , genetics , bioinformatics , gene , medicine , phenotype , paleontology