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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Main Authors: Kok Siong Poon BSc (Author), Andrew Anjian Sng MBBS, MRCPCH (Author), Cindy Weili Ho MBBS, MRCPCH (Author), Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB (Author), Kah Yin Loke MBBS, MRCP (UK) (Author)
Format: Book
Published: SAGE Publishing, 2015-08-01T00:00:00Z.
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