Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6

Pediatric Diabetes

Volumn 15, Issue 1, 2014, Pages 67-72

  Concepcion, Jennifer P ^a   Reh, Christina S ^a   Daniels, Mark ^a   Liu, Xiaoming ^b   Paz, Veronica P ^c   Ye, Honggang ^c   Highland, Heather M ^b   Hanis, Craig L ^b   Greeley, Siri Atma W ^c  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c The University of Chicago ^*  (United States)

Author keywords

Mitchell Riley Syndrome; Neonatal diabetes; RFX6

Indexed keywords

AMYLASE; BILIRUBIN GLUCURONIDE; GLUCOSE; HEMOGLOBIN; PANCREATIC ELASTASE; PHENOBARBITAL; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RFX6; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ABDOMINAL DISTENSION; ABDOMINAL RADIOGRAPHY; ALTERNATIVE RNA SPLICING; AMYLASE BLOOD LEVEL; ANNULAR PANCREAS; ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHOLESTASIS; CHRONIC DIARRHEA; CODON; COST EFFECTIVENESS ANALYSIS; DISEASE SEVERITY; DONOR SITE; DUODENUM ATRESIA; FOLLOW UP; GALLBLADDER AGENESIS; GENE; GENE SEQUENCE; GENETIC SCREENING; GLUCOSE BLOOD LEVEL; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; INTESTINE MALROTATION; INTRON; LAPAROTOMY; LIVER FAILURE; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN DIABETES MELLITUS; NONSENSE MEDIATED MRNA DECAY; OBSTRUCTIVE JAUNDICE; PARENTERAL NUTRITION; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; RFX6 GENE; ROUX Y ANASTOMOSIS; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL FOR DATE INFANT; TRIACYLGLYCEROL LIPASE BLOOD LEVEL;

MITCHELL-RILEY SYNDROME; NEONATAL DIABETES; RFX6;

ABNORMALITIES, MULTIPLE; CONGENITAL ABNORMALITIES; DIABETES MELLITUS, TYPE 1; DIGESTIVE SYSTEM ABNORMALITIES; DNA-BINDING PROTEINS; DUODENAL OBSTRUCTION; FATAL OUTCOME; GALLBLADDER; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; INTESTINAL VOLVULUS; MALE; PANCREAS; PANCREATIC DISEASES; TRANSCRIPTION FACTORS;

EID: 84893646612     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/pedi.12063     Document Type: Article

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