Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.

Hashim, Mona; Stewart, Helen; Yu, Jing; Banos-Pinero, Benito; Pagnamenta, Alistair T; Taylor, Jenny C

Hashim, Mona; Stewart, Helen; Yu, Jing; Banos-Pinero, Benito; Pagnamenta, Alistair T; Taylor, Jenny C.

Afiliación

Hashim M; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Yu J; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Taylor JC; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

Clin Genet ; 104(3): 390-392, 2023 09.

Article en En | MEDLINE | ID: mdl-37157895

Asunto(s)

Mapeo Cromosómico; Humanos; Femenino; Secuencia de Bases; Mutación

Palabras clave

KMT2E; cryptic; genome-sequencing; structural variant

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mapeo Cromosómico Límite: Female / Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido

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