Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <i>CREBBP</i> gene.

Snehi, Sagarika; Kaur, Anupriya; Chaudhry, Chakshu; Kaushik, Sushmita

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene.

Snehi, Sagarika; Kaur, Anupriya; Chaudhry, Chakshu; Kaushik, Sushmita.

Afiliação

Snehi S; Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Kaur A; Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Chaudhry C; Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Kaushik S; Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India sushmita_kaushik@yahoo.com.

BMJ Case Rep ; 16(1)2023 Jan 18.

Article em En | MEDLINE | ID: mdl-36653044

Assuntos

Glaucoma; Hidroftalmia; Queloide; Síndrome de Rubinstein-Taybi; Masculino; Humanos; Lactente; Síndrome de Rubinstein-Taybi/complicações; Síndrome de Rubinstein-Taybi/diagnóstico; Síndrome de Rubinstein-Taybi/genética; Mutação; Mutação da Fase de Leitura; Proteína de Ligação a CREB/genética

Palavras-chave

Eye; Genetics; Paediatrics (drugs and medicines)

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi / Glaucoma / Hidroftalmia / Queloide Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Revista: BMJ Case Rep Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google