Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.

Ye, Yujiao; Wang, Xianmin; Li, Guixia; Xiao, Xia; Ji, Xuehong

Ye, Yujiao; Wang, Xianmin; Li, Guixia; Xiao, Xia; Ji, Xuehong.

Afiliação

Ye Y; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China.
Wang X; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China.
Li G; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China.
Xiao X; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China.
Ji X; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China.

J Int Med Res ; 51(7): 3000605231184100, 2023 Jul.

Article em En | MEDLINE | ID: mdl-37439038

Assuntos

Síndrome de Alstrom; Feminino; Gravidez; Criança; Humanos; Lactente; Masculino; Mutação; Saúde da Criança; Tosse; Dispneia

Palavras-chave

ALMS1 gene; Alstrom syndrome; cardiomyopathy; case report; echocardiography; genetic testing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Alstrom Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: J Int Med Res Ano de publicação: 2023 Tipo de documento: Article

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