TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

Prenatal Diagnosis

Volumn 34, Issue 1, 2014, Pages 90-93

  Body Bechou, Delphine ^a   Loget, Philippe ^a   D'Herve, Dominique ^b   Le Fiblec, Bernard ^c   Grebille, Anne Gaelle ^c   Le Guern, Hélène ^d   Labarthe, Caroline ^e   Redpath, Margaret ^f   Cabaret Dufour, Anne Sophie ^a   Sylvie, Odent ^a   Fievet, Alice ^a   Antignac, Corinne ^g   Heidet, Laurence ^g   Taque, Sophie ^a   Patrice, Poulain ^a  

^a RENNES UNIVERSITY HOSPITAL   (France)

^b Ultrasound   (France)

^c CH Yves Le Foll ^*  (France)

^d CH Saint Brieuc   (France)

^e Centre de chirurgie du rachis   (France)

^f MCGILL UNIVERSITY   (Canada)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN; HEPATOCYTE NUCLEAR FACTOR 1BETA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 2; UNCLASSIFIED DRUG;

ADULT; AGENESIS; AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; CLINICAL ARTICLE; CLUBFOOT; CROWN RUMP LENGTH; EXON; FEMALE; FETUS; FETUS DISEASE; FETUS ECHOGRAPHY; FETUS WASTAGE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOPLASIA; KARYOTYPE 46,XY; KIDNEY POLYCYSTIC DISEASE; MALE; MULTICYSTIC DYSPLASTIC KIDNEY; OLIGOHYDRAMNIOS; PANCREAS AGENESIS; PANCREAS DISEASE; PANCREAS HYPOPLASIA; PHENOTYPE; PREGNANCY; PREGNANT WOMAN; PREMATURE FETUS MEMBRANE RUPTURE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BLOOD LEVEL; RISK ASSESSMENT; YOUNG ADULT;

ADULT; CLUBFOOT; FEMALE; GESTATIONAL AGE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HETEROZYGOTE; HUMANS; MULTICYSTIC DYSPLASTIC KIDNEY; MUTATION; OLIGOHYDRAMNIOS; PANCREAS; PHENOTYPE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 84891525794     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4264     Document Type: Article

References (7)

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6. Haumaitre C, et al. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet 2006;15:2363-75.
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