Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Evans, Carey-Anne; Pinner, Jason; Chan, Cheng Y; Bowyer, Lucy; Mowat, David; Buckley, Michael F; Roscioli, Tony

Evans, Carey-Anne; Pinner, Jason; Chan, Cheng Y; Bowyer, Lucy; Mowat, David; Buckley, Michael F; Roscioli, Tony.

Afiliação

Evans CA; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.
Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
Chan CY; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Bowyer L; Maternal Fetal Medicine, Royal Hospital for Women, Randwick, New South Wales, Australia.
Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
Buckley MF; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

Am J Med Genet A ; 179(10): 2152-2157, 2019 10.

Article em En | MEDLINE | ID: mdl-31321886

Assuntos

Sequenciamento do Exoma; Feto/anormalidades; Doença de Hirschsprung/diagnóstico; Doença de Hirschsprung/genética; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética; Microcefalia/diagnóstico; Microcefalia/genética; Diagnóstico Pré-Natal; Fácies; Feminino; Humanos; Masculino; Gravidez

Palavras-chave

ZEB2, Mowat-Wilson syndrome; fetus; genomic testing; prenatal diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Feto / Sequenciamento do Exoma / Doença de Hirschsprung / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Austrália

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