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

Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK.

Open source

DOI: 10.6065/apem.2142134.067
Published: 2022-01-18
Container: Ann Pediatr Endocrinol Metab
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.6065/apem.2142134.067,
  title = {First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.},
  author = {Song A and  Im M and  Kim MS and  Noh ES and  Kim C and  Jang J and  Lee SM and  Ki CS and  Cho SY and  Jin DK.},
  year = {2023},
  journal = {Ann Pediatr Endocrinol Metab},
  doi = {10.6065/apem.2142134.067},
  url = {https://doi.org/10.6065/apem.2142134.067}
}

RIS

TY  - JOUR
TI  - First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
AU  - Song A
AU  -  Im M
AU  -  Kim MS
AU  -  Noh ES
AU  -  Kim C
AU  -  Jang J
AU  -  Lee SM
AU  -  Ki CS
AU  -  Cho SY
AU  -  Jin DK.
PY  - 2023
JO  - Ann Pediatr Endocrinol Metab
DO  - 10.6065/apem.2142134.067
UR  - https://doi.org/10.6065/apem.2142134.067
ER  -

APA

A, S., M, I., MS, K., ES, N., C, K., J, J., SM, L., CS, K., SY, C., & DK., J. (2023). First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.. Ann Pediatr Endocrinol Metab. https://doi.org/10.6065/apem.2142134.067

Source records

europe-pmc · retrieved 2026-09-25T09:03:54.151Z
doaj · retrieved 2026-09-25T09:03:54.151Z