Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2821-2825

  Spiegel, Ronen ^a   Dobbie, Angus ^b   Hartman, Corina ^c   de Vries, Liat ^c,e   Ellard, Sian ^d   Shalev, Stavit A ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d UNIVERSITY OF EXETER   (United Kingdom)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

Autosomal recessive; Gallbladder agenesis; Intestinal atresia; Neonatal diabetes; Pancreatic hypoplasia; RFX6

Indexed keywords

AMINOTRANSFERASE; BILIRUBIN; C REACTIVE PROTEIN; ELASTASE; FISH OIL; GAMMA GLUTAMYLTRANSFERASE; GLUCOSE; INSULIN; INSULIN LISPRO; ISOPHANE INSULIN; LEVOTHYROXINE; LIPID EMULSION; LOPERAMIDE; PANCREAS ENZYME;

ANEMIA; ANUS ATRESIA; ARTICLE; BLOOD TRANSFUSION; CASE REPORT; CLINICAL FEATURE; DIABETES MELLITUS; DUODENUM ATRESIA; FAMILY HISTORY; FECES LEVEL; FEMALE; FETUS ECHOGRAPHY; GALLBLADDER AGENESIS; GENE FUNCTION; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLYCEMIC CONTROL; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; INSULIN BLOOD LEVEL; INTRAHEPATIC CHOLESTASIS; LIVER BIOPSY; LIVER HEMOSIDEROSIS; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; MUTATOR GENE; NEONATAL DIABETES SYNDROME; NEWBORN; NEWBORN INTENSIVE CARE; OBSTRUCTIVE JAUNDICE; ORAL REHYDRATION THERAPY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BLOOD LEVEL; RFX6 GENE; SURVIVAL RATE; VERNER MORRISON SYNDROME;

CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS; DIARRHEA; DNA-BINDING PROTEINS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; INTRONS; MALE; PARENTERAL NUTRITION; SEQUENCE DELETION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 80054923598     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34251     Document Type: Article

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