A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)
| dc.contributor.author | Saygili, Seha | |
| dc.contributor.author | Kosukcu, Can | |
| dc.contributor.author | Bastug, Turgut | |
| dc.contributor.author | Dogan, Ozlem Akgun | |
| dc.contributor.author | Yilmaz, Esra Karabag | |
| dc.contributor.author | Kalyoncu, Ayse Ucar | |
| dc.contributor.author | Agbas, Ayse | |
| dc.contributor.author | Canpolat, Nur | |
| dc.contributor.author | Caliskan, Salim | |
| dc.contributor.author | Ozaltin, Fatih | |
| dc.date.accessioned | 2025-10-16T15:14:56Z | |
| dc.date.issued | 2023 | |
| dc.identifier.doi | 10.1111/cge.14406 | |
| dc.identifier.other | WOS:001029269400001 | |
| dc.identifier.uri | https://openaccess.acibadem.edu.tr/handle/11443/6320 | |
| dc.publisher | WILEY | |
| dc.source | CLINICAL GENETICS | |
| dc.subject | CAKUT | |
| dc.subject | chronic kidney disease | |
| dc.subject | renal hypoplasia | |
| dc.subject | vesicoureteral reflux | |
| dc.title | A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT) | |
| dc.type | Article |
