Ann Pediatr Endocrinol Metab Search

CLOSE


Search

  • HOME
  • Search
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
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    PDFSupplementary 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
Full textFull text    PubreaderPubReader    ePubePub    PDFPDF    
  • Journal Impact Factor 2.8
    Pediatrics Q1
  • templates


ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
AUTHOR INFORMATION
Editorial Office
501-107, 30 Seocho-daero 74-gil, Seocho-gu, Seoul 06622, Republic of Korea
Tel: +82-2-3471-4268    Fax: +82-2-3471-4269    E-mail: editor@e-apem.org                

Copyright © 2024 by Korean Society of Pediatric Endocrinology.

Developed in M2PI

Close layer
prev next