Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

• Hoofdauteurs: Kok Siong Poon BSc (Auteur), Andrew Anjian Sng MBBS, MRCPCH (Auteur), Cindy Weili Ho MBBS, MRCPCH (Auteur), Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB (Auteur), Kah Yin Loke MBBS, MRCP (UK) (Auteur)
• Formaat: Boek
• Gepubliceerd in: SAGE Publishing, 2015-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical featur...