Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
Author:
Funder
King Abdulaziz City for Science and Technology
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
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3. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets;NN Razali;J Pediatr Endocrinol Metab,2015
4. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation;M Bastepe;Rev Endocr Metab Disord,2008
5. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets;SS Beck-Nielsen;J Hum Genet,2012
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5. Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets;Italian Journal of Pediatrics;2022-12-08
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