All individuals with variants in gene RFX6

15 entries on 1 page. Showing entries 1 - 15.
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00054777 sister1 PubMed: Skopkova 2016 family, 2 affected sisters F no Slovakia (Slovak Republic) caucasian >08y 0 - - MTCHRS - 2 2 Martina Skopkova
00054834 sister 2 PubMed: Skopkova 2016 - F no Slovakia (Slovak Republic) caucasian >13y 0 - - MTCHRS - 2 1 Martina Skopkova
00054856 - PubMed: Smith 2010, Journal: Smith 2010, PubMed: Mitchell 2004 4-generation family, 2 affected sibs (F, M), unaffected heterozugous carrier parents (2nd cousins) F yes Pakistan - 00y06m15d 0 - - MTCHRS see paper; born 34w induced delivery (poor fetal growth,<3rd percentile), prenatal ultrasound duodenal atresia (1d-confirmed by surgery and jejunal atresia, annular pancreas, gall bladder agenesis; 2d-neonatal diabetes (39h), hyperglycemia, low insulin/C-peptide levels; liver failure, liver biopsy revealed cholestasis consistent with TPN and/or extrahepatic biliary obstruction; 194d died multi-organ failure; ... 1 2 Johan den Dunnen
00054857 - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st-degree cousins) F yes Pakistan - >04y06m 0 - - MTCHRS born 35w, small (2nd percentile); 1d-duodenal atresia surgically corrected, gall bladder agenesis noted during surgery; 8d-insulin treatment after persistent hyperglycemia with low C-peptide levels, normal feeding but failed to thrive, developed hyperbilirubinemia; liver biopsy cholestatic disease, no biliary atresia on cholangiography but portal areas oedematous/narrowed by bile plugs; 11m-hyperbilirubinemia gradually resolved without signs liver disease; 4y6m-alive, insulin dependent 1 1 Johan den Dunnen
00054858 - PubMed: Smith 2010, Journal: Smith 2010 chld from in vitro fertilisation (donated egg) F no - - >09y 0 - - MTCHRS in vitro fertilization donated egg; born 39w, small; prenatal ultrasoun suspected duodenal atresia; 2d-laparoscopy revealing malrotation,duodenal web necessitating lysis of bands, during hospitalization developed hyperglycemia, received insulin briefly; 1.5m-readmitted hyperbilirubinemia, failure to thrive, hyperglycemia requiring insulin, low C-peptide levels; liver biopsy consistent with cholestatic disease, normal intra/extra-hepatic ducts; 9y-alive, insulin dependent (small dose) 2 1 Johan den Dunnen
00054859 - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 00y02m15d 0 - - MTCHRS born 35w, small (<10th percentile); prenatal ultrasound poor fetal growth, duodenal atresia; 9d-duodenal atresia surgery; 2d-neonatal diabetes, hyperglycemia undetectable insulin/C-peptide levels; refractory ascites, sepsis, gastrointestinal hemorrhage causing death 2.5m; mother gestational diabetes, fatehr diabetes diagnosed as type 1 1 1 Johan den Dunnen
00054860 - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Belgium Morrocan 00y03m 0 - - MTCHRS intestinal atresia, intestinal malrotation, intrauterine growth restriction, gall bladder agenesis, hemochromatosis; 3d-insulin treatment, low C-peptide levels were low; 3m-died 1 1 Johan den Dunnen
00057179 - PubMed: Skopkova 2016 - F ? Slovakia (Slovak Republic) Caucasian >34y 0 - - Healthy/Control - 2 1 Martina Skopkova
00106138 patient 1 PubMed: Spiegel 2011 - M ? Israel Arab >01y09m 0 - - MTCHRS insulin dependent diabetes mellitus, duodenal and jejunal atresia, intestinal malrotation, gall bladder agenesis, cholestasis, annulat pancreas, malabsorption unresponsive to pancreatic supplements, intractable diarrhea, neonatal anemia 1 1 Martina Skopkova
00106140 - PubMed: Conception 2014 - M no Viet Nam - 00y05m 0 - - MTCHRS duodenal atresia, intestinal malrotation, jejunal perforation, diarrhea unresponsive to pancreatic supplements, gall bladder agenesis, cholestasis, anular pancreas, fluctuating glycemia 1 1 Martina Skopkova
00106163 - PubMed: Chandra 2014 - F - India - >06y 0 - - MTCHRS diabetes mellitus, duodenal stenosis, jejunal atresia, neonatal chronic diarrhea, pancreas hypoplasia, gall bladder agenesis, chronic anemia 1 1 Martina Skopkova
00106164 - PubMed: Sansbury 2015 1 family, 2 patients - double first cousins, a female and a male - yes Turkey - >09y 0 - - MTCHRS diabetes mellitus, duodenal atresia, jejunal web, Meckel's diverticulum, GI bleeding, heterotopy of gastric mucosa within the small bowel, gall bladder agenesis, anemia 2 2 Martina Skopkova
00106165 - PubMed: Zegre Amorim 2015 - F yes Portugal gypsy >00y07m 0 - - MTCHRS diabetes mellitus, duodenal atresia, intestinal malrotation, ectopic pancreatic tissue in jejunum, unresponsive diarrhea, gall bladder agenesis, anular pancreas, anemia, anteriorly placed anus 1 1 Martina Skopkova
00293965 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00293966 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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