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

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

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...

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Bibliographic Details
Main Authors: Kok Siong Poon BSc, Andrew Anjian Sng MBBS, MRCPCH, Cindy Weili Ho MBBS, MRCPCH, Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB, Kah Yin Loke MBBS, MRCP (UK), FRCPCH
Format: Article
Language:English
Published: SAGE Publishing 2015-08-01
Series:Journal of Investigative Medicine High Impact Case Reports
Online Access:https://doi.org/10.1177/2324709615598167

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https://doi.org/10.1177/2324709615598167

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