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Page 1
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K. Güvenoğlu M, et al. Among authors: gucer s. Pediatr Gastroenterol Hepatol Nutr. 2022 Nov;25(6):441-452. doi: 10.5223/pghn.2022.25.6.441. Epub 2022 Nov 2. Pediatr Gastroenterol Hepatol Nutr. 2022. PMID: 36451688 Free PMC article. Review.
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F. Taskiran EZ, et al. Among authors: gucer s. J Am Soc Nephrol. 2014 Aug;25(8):1653-61. doi: 10.1681/ASN.2013060646. Epub 2014 Mar 7. J Am Soc Nephrol. 2014. PMID: 24610927 Free PMC article.
Index of suspicion.
Hızarcioglu-Gulsen H, Aydemir Y, Gucer S, Berberoglu-Ates B, Hizal G, Peynircioglu B, Saltik-Temizel IN, Chawla H, Schwartzberg P, Nakhleh N, Loveridge-Lenza B, Ballance C, Sultan R, Naganathan S, Ngido F, Misra S. Hızarcioglu-Gulsen H, et al. Among authors: gucer s. Pediatr Rev. 2014 Dec;35(12):531-7. doi: 10.1542/pir.35-12-531. Pediatr Rev. 2014. PMID: 25452662 No abstract available.
103 results