Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis

Diabetic Medicine

Volumn 27, Issue 10, 2010, Pages 1195-1200

  D'Amato, E ^a,b   Giacopelli, F ^a,c   Giannattasio, A ^a   D'Annunzio, G ^a   Bocciardi, R ^a,c   Musso, M ^a,c   Lorini, R ^a   Ravazzolo, R ^a,c  

^a UNIVERSITY OF GENOA   (Italy)

^b National Institute for Cancer Research   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

atrial septal defect; congenital heart defect; GATA4; pancreatic agenesis; permanent neonatal diabetes

Indexed keywords

GENOMIC DNA; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; METFORMIN; NEUROGENIN 3; PROTEIN GCK; PROTEIN INS; PROTEIN PTF 1 A; SULFONYLUREA RECEPTOR 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR PDX 1; TRANSCRIPTION FACTOR SOX17; TRANSCRIPTION FACTOR SOX7; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG;

AGENESIS; ARTICLE; CASE REPORT; DIABETES MELLITUS; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; FAMILY HISTORY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEART ATRIUM SEPTUM DEFECT; HEART CATHETERIZATION; HUMAN; IMMUNOCYTOCHEMISTRY; KARYOTYPE; LABORATORY TEST; MALE; NEWBORN; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL GLUCOSE TOLERANCE TEST; PHENOTYPE; PHYSICAL EXAMINATION; SITE DIRECTED MUTAGENESIS;

CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; DIABETES MELLITUS, TYPE 1; DNA MUTATIONAL ANALYSIS; GATA4 TRANSCRIPTION FACTOR; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PANCREAS;

EID: 77956799078     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2010.03046.x     Document Type: Article

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