A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.

Aydin, Can; Kiral, Eylem; Susam, Ezgi; Tufan, Asli Kavaz; Yarar, Coskun; Çetin, Nuran; Kocagil, Sinem; Kirel, Birgül

Aydin, Can; Kiral, Eylem; Susam, Ezgi; Tufan, Asli Kavaz; Yarar, Coskun; Çetin, Nuran; Kocagil, Sinem; Kirel, Birgül.

Afiliación

Aydin C; Departments of Pediatric Endocrinology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Kiral E; Departments of Pediatric Intensive Care, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Susam E; Departments of Medical Genetics, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Tufan AK; Departments of Pediatric Nephrology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Yarar C; Departments of Pediatric Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Çetin N; Departments of Pediatric Nephrology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Kocagil S; Departments of Medical Genetics, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Kirel B; Departments of Pediatric Endocrinology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.

Turk J Pediatr ; 64(3): 558-565, 2022.

Article en En | MEDLINE | ID: mdl-35899569

Asunto(s)

Diabetes Mellitus Tipo 2; Cetoacidosis Diabética; Hiperuricemia; Discapacidad Intelectual; Adolescente; Enfermedades del Sistema Nervioso Central; Deleción Cromosómica; Esmalte Dental/anomalías; Diabetes Mellitus Tipo 2/diagnóstico; Diabetes Mellitus Tipo 2/genética; Cetoacidosis Diabética/complicaciones; Cetoacidosis Diabética/diagnóstico; Cetoacidosis Diabética/genética; Femenino; Factor Nuclear 1-beta del Hepatocito/genética; Humanos; Hiperuricemia/genética; Discapacidad Intelectual/genética; Enfermedades Renales Quísticas

Palabras clave

17q12 microdeletion; MODY5; intellecual disability; ketoacidosis; renal cyst

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cetoacidosis Diabética / Hiperuricemia / Diabetes Mellitus Tipo 2 / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Turk J Pediatr Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía

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