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

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

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...

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Bibliographic Details
Main Authors: Ender COŞKUNPINAR, Sakin TEKİN, Şükrü PALANDUZ, Hakan AVCI, Kıvanç CEFLE, N. Ozan TİRYAKİOĞLU, Ayşe KUBAT ÜZÜM, Refik TANAKOL, İlhan SATMAN
Format: Article
Language:English
Published: Galenos Publishing House 2018-04-01
Series:Bezmiâlem Science
Subjects:
Hypophosphatemic rickets
hearing loss
ENPP1
mutation
Online Access: http://bezmialemscience.org/archives/archive-detail/article-preview/could-the-enpp1-pd85h-mutation-be-associated-with-/20185

Internet

http://bezmialemscience.org/archives/archive-detail/article-preview/could-the-enpp1-pd85h-mutation-be-associated-with-/20185

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