Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?

Tarih
2018
Yazar
Satman, Ilhan
Uzum, Ayse Kubat
Palanduz, Sukru
Cefle, Kivanc
Avci, Hakan
Tekin, Sakin
Tiryakioglu, N. Ozan
Coskunpinar, Ender
Tanakol, Refik
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Özet
Objective: A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated with familial hypophosphatemia, which revealed an ENPP1 mutation.
Bağlantı
http://hdl.handle.net/20.500.12627/160123
https://doi.org/10.14235/bs.2018.1840
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