Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study
SGA-SS has a heterogeneous genetic basis, with CNVs significantly contributing. The variable presentation of 22q11.2 microdeletion syndrome highlights its relevance. A genetic diagnosis is more likely in familial cases or those with ID/DD, supporting the utility of genetic testing.
Authors
- Sangkyoon Hong (ORCID: https://orcid.org/0000-0003-4487-5872)
- Young‐Jun Seo (ORCID: https://orcid.org/0000-0001-6884-6481)
- Eun Byul Kwon (ORCID: https://orcid.org/0000-0002-1500-1925)
- Nan Young Kim (ORCID: https://orcid.org/0000-0001-9245-8657)
- Min Jae Kang (ORCID: https://orcid.org/0000-0003-3080-0941)
- Hwal Rim Jeong (ORCID: https://orcid.org/0000-0001-7040-9600)
- Go Hun Seo (ORCID: https://orcid.org/0000-0003-1518-1791)
- Il Tae Hwang (ORCID: https://orcid.org/0000-0002-3885-4322)
- Hye Young Jin (ORCID: https://orcid.org/0000-0003-1433-3394)
- Eu-Seon Noh
- Ji Eun Lee (ORCID: https://orcid.org/0000-0002-7386-0015)
- Hye Jin Lee (ORCID: https://orcid.org/0000-0002-7925-5238)
- Eun Young Kim (ORCID: https://orcid.org/0000-0002-3281-5744)
- Su Jin Kim (ORCID: https://orcid.org/0000-0003-0893-0512)
- Sang Hee Park
- Yena Lee (ORCID: https://orcid.org/0000-0001-8740-8049)
Institutions
- Hallym University (KR)
- Soonchunhyang University (KR)
- Sacred Heart Hospital (NG)
- Hallym University Kangnam Sacred Heart Hospital (KR)
- Chosun University Hospital (KR)
- Kangdong Sacred Heart Hospital (KR)
- Hallym University Dongtan Sacred Heart Hospital (KR)
- Inha University Hospital (KR)
- Hallym University Sacred Heart Hospital (KR)
- Hallym University Chuncheon Sacred Heart Hospital (KR)
- Hallym University Medical Center (KR)
- Orion Corporation (United Kingdom) (GB)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-09-25
- DOI
- https://doi.org/10.1210/clinem/dgaf533
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- LG Chem