Annals of Pediatric Endocrinology & Metabolism

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo

Ann Pediatr Endocrinol Metab. 2014;19(1):36-41. Published online 2014 Mar 31 DOI: https://doi.org/10.6065/apem.2014.19.1.36

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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

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