A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Kang, Yea Eun, Hong, Jun Hwa, Kim, Jimin, Joung, Kyong Hye, Kim, Hyun Jin, Ku, Bon Jeong, Kim, Koon Soon
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Korean Endocrine Society 2014
विषय:
Case Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4091495/
https://ncbi.nlm.nih.gov/pubmed/25031893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3803/EnM.2014.29.2.195
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन