title: Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children.
abstract: We report a series of patients with transient neonatal diabetes mellitus (TNDM). Paternal uniparental isodisomy of chromosome 6 and heterozygous KCNJ11 and ABC88 mutation were the mutations found. This first reported series of Brazilian patients expands the geographical data on TNDM contributing to better understanding of its pathophysiology.
authors: Pediatric Endocrinology Unit, Hospital Universitario Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil. cresio.alves@uol.com.br
authors: Cresio
authors: C
authors: Alves
authors: Sarah E
authors: SE
authors: Flanagan
authors: Sian
authors: S
authors: Ellard
authors: Deborah J
authors: DJ
authors: Mackay
mesh_terms: D001938:Brazil / Q000453:epidemiology; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000151:congenital / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D059785:Karyotype; D008297:Male