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Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S, Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E, Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, Roepman R, Azam M, Arts HH, Qamar R. Maria M, et al. Among authors: nazmutdinova k. Sci Rep. 2016 Oct 6;6:34764. doi: 10.1038/srep34764. Sci Rep. 2016. PMID: 27708425 Free PMC article.