Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome

S Taşdemir, A Güzel-Ozantürk, JD Marshall, GB Collin, RK Özgül, N Narin, M Dündar, JK Naggert
2013 Clinical Genetics  
doi:10.1111/j.1399-0004.2012.01883.x pmid:22533542 pmcid:PMC3777397 fatcat:gxlg6dmm6fblbcb636zubejhja