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Author:(Jahyun JANG)

1.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

Annals of Pediatric Endocrinology & Metabolism 2018;23(4):229-234

2.First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

Ari SONG ; Minji IM ; Min-Sun KIM ; Eu Seon NOH ; Chiwoo KIM ; Jahyun JANG ; Sae-Mi LEE ; Chang-Seok KI ; Sung Yoon CHO ; Dong-Kyu JIN

Annals of Pediatric Endocrinology & Metabolism 2023;28(1):67-72

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