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Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

✍ Scribed by Nicole Pfarr; Eckhard Korsch; Stefan Kaspers; Antje Herbst; Armin Stach; Claudia Zimmer; Joachim Pohlenz


Book ID
108703566
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
248 KB
Volume
65
Category
Article
ISSN
0300-0664

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Congenital dyserythropoietic anemia type
✍ Paola Bianchi; Elisa Fermo; Cristina Vercellati; Carla Boschetti; Wilma Barcelli πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 313 KB

Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused