Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Autorzy:
Güvenoğlu M; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Şimşek-Kiper PÖ; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Koşukcu C; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey. Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Saltık-Temizel İN; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey. Gucer S; Division of Pediatric Pathology, Department of Pediatrics, Hacettepe University, Ankara, Turkey. Utine E; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. BoduroğluK; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.
Autorzy:
Ürel Demir G; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Doğan ÖA; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Şimşek Kiper PÖ; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Utine GE; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. BoduroğluK; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Gucer S; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Alikaşifoğlu M; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2017 Dec; Vol. 36 (6), pp. 445-451. Date of Electronic Publication: 2017 Dec 08.
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