Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Yamada, Mamiko; Shiraishi, Yuichi; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Abe-Hatano, Chihiro; Kurosawa, Kenji; Kosaki, Kenjiro

Yamada, Mamiko; Shiraishi, Yuichi; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Abe-Hatano, Chihiro; Kurosawa, Kenji; Kosaki, Kenjiro.

Afiliação

Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Shiraishi Y; Section of Genome Analysis Platform, Center for Cancer Genomic and Advanced Therapeutics, National Cancer Center Research Institute, Tokyo, Japan.
Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Abe-Hatano C; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Mol Genet Genomic Med ; 8(9): e1364, 2020 09.

Article em En | MEDLINE | ID: mdl-32588992

Assuntos

Fissura Palatina/genética; Craniossinostoses/genética; Sequenciamento do Exoma/métodos; Deficiência Intelectual/genética; RNA-Seq/métodos; Células Cultivadas; Criança; Fissura Palatina/diagnóstico; Craniossinostoses/diagnóstico; Exoma; Feminino; Ribonucleoproteínas Nucleares Heterogêneas Grupo K/genética; Heterozigoto; Humanos; Deficiência Intelectual/diagnóstico; RNA-Seq/normas; Sensibilidade e Especificidade; Síndrome; Transcriptoma; Sequenciamento do Exoma/normas

Palavras-chave

HNRNPK; Au; Kline syndrome; RNA-seq; integrated analysis; splicing

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fissura Palatina / Craniossinostoses / Sequenciamento do Exoma / RNA-Seq / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Evaluation_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google