Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Scientific Reports
Maria, Maleeha M; Lamers, Ideke J C IJ; Schmidts, Miriam M; Ajmal, Muhammad M; Jaffar, Sulman S; Ullah, Ehsan E; Mustafa, Bilal B; Ahmad, Shakeel S; Nazmutdinova, Katia K; Hoskins, Bethan B; van Wijk, Erwin E; Koster-Kamphuis, Linda L; Khan, Muhammad Imran MI; Beales, Phil L PL; Cremers, Frans P M FP; Roepman, Ronald R; Azam, Maleeha M; Arts, Heleen H HH; Qamar, Raheel R