Associated Papers
Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.
Demirtas İ et al.
Journal of Medical Case Reports, 2025
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
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