Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.

Du, Yang Timothy; Moore, Lynette; Poplawski, Nicola K; De Sousa, Sunita M C

Du, Yang Timothy; Moore, Lynette; Poplawski, Nicola K; De Sousa, Sunita M C.

Afiliação

Du YT; Endocrine and Metabolic Unit, Royal Adelaide Hospital.
Moore L; School of Medicine, University of Adelaide.
Poplawski NK; SA Pathology, Women's and Children's Hospital.
De Sousa SMC; Adult Genetics Unit, Royal Adelaide Hospital.

Endocrinol Diabetes Metab Case Rep ; 20192019 May 03.

Article em En | MEDLINE | ID: mdl-31051468

Palavras-chave

2019; Adult; Australia; Cardiology; Cardiovascular endocrinology; Cognitive problems; DNA sequencing; Developmental endocrinology; Diabetes; Facial plethora; Facies - abnormal; GH; Genetic analysis; Genetics; Genetics and mutation; Gonadotropins; Growth hormone deficiency; Growth hormone deficiency (adult); Haematoxylin and eosin staining; Heart; Histopathology; Hypogonadism; Immunostaining; Insulin; Kidney; Male; May; Molecular genetic analysis; Neonatal diabetes; New disease or syndrome: presentations/diagnosis/management; Paediatric endocrinology; Paediatrics; Pancreas; Pituitary; Proteinuria; Renal biopsy; Umbilical hernia; Urology; White

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline / Prognostic_studies Idioma: En Revista: Endocrinol Diabetes Metab Case Rep Ano de publicação: 2019 Tipo de documento: Article

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