Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis | Zendy

Sarah Boissel | Zendy; Catherine FalletBianco | Zendy; David Chitayat | Zendy; Valérie Kremer | Zendy; Christissif | Zendy; Françoise Rypens | Zendy; MarieAnge Delrue | Zendy; Dorothée Dal Soglio | Zendy; Luc L. Oligny | Zendy; Natalie Patey | Zendy; Elisabeth Flori | Zendy; M. Cloutier | Zendy; David A. Dyment | Zendy; Philippe M. Campeau | Zendy; Aspasia Karalis | Zendy; Sonia Nizard | Zendy; William D. Fraser | Zendy; François Audibert | Zendy; Emmanuelle Lemyre | Zendy; Guy A. Rouleau | Zendy; Fadi F. Hamdan | Zendy; Zoha Kibar | Zendy; Jacques L. Michaud | Zendy

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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Author(s) -

Sarah Boissel,

Catherine FalletBianco,

David Chitayat,

Valérie Kremer,

Christissif,

Françoise Rypens,

MarieAnge Delrue,

Dorothée Dal Soglio,

Luc L. Oligny,

Natalie Patey,

Elisabeth Flori,

M. Cloutier,

David A. Dyment,

Philippe M. Campeau,

Aspasia Karalis,

Sonia Nizard,

William D. Fraser,

François Audibert,

Emmanuelle Lemyre,

Guy A. Rouleau,

Fadi F. Hamdan,

Zoha Kibar,

Jacques L. Michaud

Publication year - 2017

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.2017.173

Subject(s) - ciliopathies , exome sequencing , renal agenesis , medicine , tracheoesophageal fistula , prenatal diagnosis , dysgenesis , exome , genetic heterogeneity , bioinformatics , genetics , pathology , phenotype , atresia , fetus , biology , pregnancy , kidney , gene , anatomy

Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.

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