Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy | Zendy

Frauke Coppieters | Zendy; Kristof Van Schil | Zendy; Miriam Bauwens | Zendy; Hannah Verdin | Zendy; Annelies De Jaegher | Zendy; Delfien Syx | Zendy; Tom Sante | Zendy; Steve Lefever | Zendy; N. Bouayed Abdelmoula | Zendy; Fanny Depasse | Zendy; Ingele Casteels | Zendy; Thomy de Ravel | Zendy; Françoise Meire | Zendy; Bart P. Leroy | Zendy; Elfride De Baere | Zendy

Open Access

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Author(s) -

Frauke Coppieters,

Kristof Van Schil,

Miriam Bauwens,

Hannah Verdin,

Annelies De Jaegher,

Delfien Syx,

Tom Sante,

Steve Lefever,

N. Bouayed Abdelmoula,

Fanny Depasse,

Ingele Casteels,

Thomy de Ravel,

Françoise Meire,

Bart P. Leroy,

Elfride De Baere

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.24

Subject(s) - exome sequencing , sanger sequencing , genetics , biology , exome , disease gene identification , retinitis pigmentosa , mutation , gene

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.

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