A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Dos Santos, Suely Rodrigues; Piergiorge, Rafael Mina; Rocha, Jady; Abdala, Bianca Barbosa; Gonçalves, Andressa Pereira; Pimentel, Márcia Mattos Gonçalves; Santos-Rebouças, Cíntia Barros

Dos Santos, Suely Rodrigues; Piergiorge, Rafael Mina; Rocha, Jady; Abdala, Bianca Barbosa; Gonçalves, Andressa Pereira; Pimentel, Márcia Mattos Gonçalves; Santos-Rebouças, Cíntia Barros.

Afiliación

Dos Santos SR; Gaffrée and Guinle University Hospital, Federal University of Rio de Janeiro State, Rio de Janeiro, Brazil.
Piergiorge RM; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Rocha J; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Abdala BB; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Gonçalves AP; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Pimentel MMG; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Santos-Rebouças CB; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil. cbs@uerj.br.

Metab Brain Dis ; 37(7): 2431-2440, 2022 10.

Article en En | MEDLINE | ID: mdl-35829845

Asunto(s)

Coriorretinitis; Discapacidad Intelectual; Femenino; Humanos; Fenotipo; Mutación Missense; Discapacidad Intelectual/genética; Síndrome; Cromatina; Factor de Transcripción YY1/genética; Factor de Transcripción YY1/química; Factor de Transcripción YY1/metabolismo

Palabras clave

GADEVS; Gabriele-de Vries syndrome; Whole exome sequencing; X-chromosome inactivation; X-chromosome inactivation skewing; YY1 gene

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coriorretinitis / Discapacidad Intelectual Límite: Female / Humans Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2022 Tipo del documento: Article País de afiliación: Brasil

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