Özdilli, KürşatBekereçioğlu, MehmetPehlivan, SadiceBüyükgüral, Bülent10.07.20192019-07-1010.07.20192019-07-102017Özdilli, K., Bekereçioğlu, M., Pehlivan, S. ve Büyükgüral, B. (2017). A preliminary association study in Turkish population: Do IL-17 and UCP2 Gene variants Contributes to The Ethiology of Microtia? Molecular Biology of the Cell. Philadelphia, USA, December 02-06, 2017.1059-15241939-4586https://hdl.handle.net/20.500.12511/3454Annual Joint Meeting of the American-Society-for-Cell-Biology and the European-Molecular-Biology-Organization (ASCB/EMBO) -- DEC 02-06, 2017 -- Philadelphia, PAWOS: 000426664302068Counselling sessions with her family revealed that there were atleast four of her relatives suffering from the same symptoms. We draw a pedigree displaying three generations and consanguinity of the family and carried out a WES analysis to selected. Results revealed that, three severely affected family members had 1-bp insertion in the WNK1 gene and homozygous for the allele. This WNK1 gene was one of the candidate genes for HSAN type 2.eninfo:eu-repo/semantics/openAccessEthiologyResults RevealedPedigree DisplayingConference Object28Q3