Article
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2014
Coppieters Frauke, Van Schil Kristof, Bauwens Miriam, Verdin Hannah, De Jaegher Annelies, Syx Delfien, Sante Tom, Lefever Steve, Abdelmoula Nouha Bouayed, Depasse Fanny, Casteels Ingele, de Ravel Thomy, Meire Françoise, Leroy Bart P, De Baere Elfride
Abstract excerpt
PURPOSE: Autosomal recessive retinal dystrophies are clinically and genetically heterogeneous, which hampers molecular diagnosis. We evaluated identity-by-descent-guided Sanger sequencing or whole-exome sequencing in 26 families with nonsyndromic (19) or syndromic (7) autosomal recessive retinal dystrophies to identify disease-causing mutations. METHODS: Patients underwent genome-wide identity-by-descent mapping...
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