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

Coskunpinar E., Tekin S., Palanduz S., Avci H., Cefle K., Tiryakioglu N. O., ...Daha Fazla

BEZMIALEM SCIENCE, cilt.6, sa.2, ss.126-129, 2018 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.14235/bs.2018.1840
  • Dergi Adı: BEZMIALEM SCIENCE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.126-129
  • Anahtar Kelimeler: Hypophosphatemic rickets, hearing loss, ENPP1, mutation
  • İstanbul Üniversitesi Adresli: Evet

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.