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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
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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
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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
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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 March 31, 2014
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