Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of <i>ALMS1</i>.

Yang, Hui-Jie; Li, De; Bai, Hui-Ling; Zhang, Ming; Huang, Jun; Yuan, Xiao-Qing

Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of ALMS1.

Yang, Hui-Jie; Li, De; Bai, Hui-Ling; Zhang, Ming; Huang, Jun; Yuan, Xiao-Qing.

Afiliación

Yang HJ; Department of Endocrinology, Changzhou Second People's Hospital affiliated to Nanjing Medical University, Changzhou 213000, China.
Li; Department of Endocrinology, Changzhou Second People's Hospital affiliated to Nanjing Medical University, Changzhou 213000, China.
Bai HL; Department of Endocrinology, Changzhou Second People's Hospital affiliated to Nanjing Medical University, Changzhou 213000, China.
Zhang M; Department of Endocrinology, Changzhou Second People's Hospital affiliated to Nanjing Medical University, Changzhou 213000, China.
Huang J; Department of Endocrinology, Changzhou Second People's Hospital affiliated to Nanjing Medical University, Changzhou 213000, China.
Yuan XQ; Department of Endocrinology, Changzhou Second People's Hospital affiliated to Nanjing Medical University, Changzhou 213000, China.

Yi Chuan ; 44(12): 1148-1157, 2022 Dec 20.

Article en En | MEDLINE | ID: mdl-36927560

Asunto(s)

Síndrome de Alstrom; Sordera; Diabetes Mellitus; Hígado Graso; Resistencia a la Insulina; Adolescente; Humanos; Masculino; Síndrome de Alstrom/genética; Síndrome de Alstrom/diagnóstico; Proteínas de Ciclo Celular/genética; Mutación; Obesidad/genética; Diabetes Mellitus/genética; Ceguera

Palabras clave

<i>ALMS1</i>; Alstrom syndrome; blindness; diabetes mellitus; sensorineural hearing loss

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Resistencia a la Insulina / Sordera / Diabetes Mellitus / Hígado Graso / Síndrome de Alstrom Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Yi Chuan Asunto de la revista: GENETICA Año: 2022 Tipo del documento: Article País de afiliación: China

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