Annals of Pediatric Endocrinology & Metabolism


A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets: In Hwa Jeong, Jae-Ho Yoo, Namhee Kim; Ann Pediatr Endocrinol Metab. 2021;26(2):130-133. Published online June 30, 2021; DOI: https://doi.org/10.6065/apem.2040186.093
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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets: Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak; Ann Pediatr Endocrinol Metab. 2020;25(1):63-67. Published online March 31, 2020; DOI: https://doi.org/10.6065/apem.2020.25.1.63
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets: Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin; Ann Pediatr Endocrinol Metab. 2018;23(4):229-234. Published online December 31, 2018; DOI: https://doi.org/10.6065/apem.2018.23.4.229
Web of Science 7 Crossref 4; Full text PubReader ePub PDF

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