본문 바로가기
KERD
논문KCI 등재

Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"

1

조회

0

다운로드

0

인용

0

참고문헌

주제분류소아과학

참고문헌 (15)

  1. Dauber A, "Genetic evaluation of short stature", J Clin Endocrinol Metab, 99, pp.3080~3092 (2014)
  2. Blum WF, "Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion : frequencies, phenotypes and growth outcomes", EBioMedicine, 36, pp.390~400 (2018)
  3. Wood AR, "Defining the role of common variation in the genomic and biological architecture of adult human height", Nat Genet, 46, pp.1173~1186 (2014)
  4. Baron J, "Short and tall stature : a new paradigm emerges", Nat Rev Endocrinol, 11, pp.735~746 (2015)
  5. Saltarelli MA, "Growth plate extracellular matrix defects and short stature in children", Ann Pediatr Endocrinol Metab, 27, pp.247~255 (2022)
  6. Wit JM, "Towards a rational and efficient diagnostic approach in children referred for growth failure to the general paediatrician", Horm Res Paediatr, 91, pp.223~240 (2019)
  7. Mintz CS, "Focused revision : ACMG practice resource : genetic evaluation of short stature", Genet Med, 23, pp.813~815 (2021)
  8. Savage MO, "Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches", Ann Pediatr Endocrinol Metab, 26, pp.218~226 (2021)
  9. Zhou E, "Genetic evaluation in children with short stature", Curr Opin Pediatr, 33, pp.458~463 (2021)
  10. Sentchordi-Montane L, "High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies", Eur J Endocrinol, 185, pp.691~705 (2021)
  11. Freire BL, "Multigene sequencing analysis of children born small for gestational age with isolated short stature", J Clin Endocrinol Metab, 104, pp.2023~2030 (2019)
  12. Kim YM, "High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing", Clin Genet, 92, pp.594~605 (2017)
  13. Kim SJ, "Genetic evaluation using next-generation sequencing of children with short stature : a single tertiary-center experience", Ann Pediatr Endocrinol Metab, 29, pp.38~46 (2024)
  14. Song A, "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, 28, pp.67~72 (2023)
  15. Kim MR, "Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome : a case report and review", Ann Pediatr Endocrinol Metab, 28(Suppl 1), pp.S25~S28 (2023)

관련 논문AI추천

이 간행물의 다른 논문 (10건)