Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Filges, I; Nosova, E; Bruder, E; Tercanli, S; Townsend, K; Gibson, W T; Röthlisberger, B; Heinimann, K; Hall, J G; Gregory-Evans, C Y; Wasserman, W W; Miny, P; Friedman, J M

Filges, I; Nosova, E; Bruder, E; Tercanli, S; Townsend, K; Gibson, W T; Röthlisberger, B; Heinimann, K; Hall, J G; Gregory-Evans, C Y; Wasserman, W W; Miny, P; Friedman, J M.

Affiliation

Filges I; Department of Medical Genetics, University of British Columbia, and Child and Family Research Institute, Vancouver, Canada; Division of Medical Genetics, Department of Biomedicine, University Hospital, Basel, Switzerland.

Clin Genet ; 86(3): 220-8, 2014 Sep.

Article in En | MEDLINE | ID: mdl-24128419

Subject(s)

Abnormalities, Multiple/genetics; Ciliary Motility Disorders/genetics; Genetic Predisposition to Disease/genetics; Kinesins/genetics; Oncogene Proteins/genetics; Phenotype; Abnormalities, Multiple/pathology; Base Sequence; Ciliary Motility Disorders/pathology; Exome/genetics; Genes, Recessive/genetics; High-Throughput Nucleotide Sequencing; Humans; Molecular Sequence Data; Mutation/genetics

Key words

KIF14; autosomal recessive; ciliopathy; cytokinesis; exome sequencing; fetal; lethal; prenatal

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Ciliary Motility Disorders / Kinesins / Oncogene Proteins / Genetic Predisposition to Disease Limits: Humans Language: En Journal: Clin Genet Year: 2014 Type: Article Affiliation country: Switzerland

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