A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Ishida, M; Cullup, T; Boustred, C; James, C; Docker, J; English, C; Lench, N; Copp, A J; Moore, G E; Greene, N D E; Stanier, P

Ishida, M; Cullup, T; Boustred, C; James, C; Docker, J; English, C; Lench, N; Copp, A J; Moore, G E; Greene, N D E; Stanier, P.

Afiliação

Ishida M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Cullup T; Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories, London, UK.
Boustred C; Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories, London, UK.
James C; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Docker J; Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories, London, UK.
English C; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Lench N; Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories, London, UK.
Copp AJ; Congenica Ltd, Cambridge, UK.
Moore GE; Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Greene NDE; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Stanier P; Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Clin Genet ; 93(4): 870-879, 2018 04.

Article em En | MEDLINE | ID: mdl-29205322

Assuntos

Anencefalia/genética; Epistasia Genética; Defeitos do Tubo Neural/genética; Disrafismo Espinal/genética; Anencefalia/fisiopatologia; Animais; Modelos Animais de Doenças; Feminino; Estudos de Associação Genética; Humanos; Masculino; Camundongos; Mutação; Defeitos do Tubo Neural/fisiopatologia; Fenótipo; Gravidez; Crânio/anormalidades; Crânio/fisiopatologia; Disrafismo Espinal/fisiopatologia; Sequenciamento do Exoma

Palavras-chave

anencephaly; craniorachischisis; molecular diagnosis; neural tube defects; targeted exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disrafismo Espinal / Epistasia Genética / Anencefalia / Defeitos do Tubo Neural Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido

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