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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
Ann Pediatr Endocrinol Metab.
2023;28(1):67-72. Published online January 18, 2022
DOI:
https://doi.org/10.6065/apem.2142134.067
Web of Science 2
Crossref 2
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Supplementary Material
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 8
Crossref 5
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1
Journal Impact Factor 2.8
Pediatrics Q1
ABOUT
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