Peer-reviewedCC BYFrontiers in cell and developmental biology
Expanding the clinical and molecular spectrum of Schaaf-Yang syndrome in China: evidence for a severe phenotypic subgroup associated with MAGEL2 c.1996-Region variants
5 affiliations
- 1Department of Endocrinology and Metabolism, Jinhua Municipal Central Hospital , ,
- 2Children’s Hospital, Zhejiang University School of Medicine , ,
- 3Department of Gynecology, Jinhua Maternity and Child Health Care Hospital , ,
- 4Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents’ Health and Diseases , ,
- 5Department of Gastroenterology, Jinhua Municipal Central Hospital , ,
Related
- The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
- Clinical and Genetic Spectrum of OPN1LW/OPN1MW-Associated Disorders in a Chinese Cohort: Contribution of Long-Read Sequencing
- Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.
- The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum
- Emerging Roles of FGFR3 and FGF23-Associated Signaling in Renal Fibrosis: Molecular Integration, Clinical Correlates, and Therapeutic Perspectives
BibTeX
@article{chen2026expanding,
title = {{Expanding the clinical and molecular spectrum of Schaaf-Yang syndrome in China: evidence for a severe phenotypic subgroup associated with MAGEL2 c.1996-Region variants}},
author = {Xue-Fei Chen and Shu-jiong Mao and Sheng Zhong and Shanshan Shen and Xue-Yong Lou and Chao-Chun Zou and Tao Ling},
journal = {Frontiers in cell and developmental biology},
year = {2026},
month = oct,
url = {https://europepmc.org/article/PMC/PMC13661550},
note = {CC BY},
}
RIS
TY - JOUR
TI - Expanding the clinical and molecular spectrum of Schaaf-Yang syndrome in China: evidence for a severe phenotypic subgroup associated with MAGEL2 c.1996-Region variants
AU - Xue-Fei Chen
AU - Shu-jiong Mao
AU - Sheng Zhong
AU - Shanshan Shen
AU - Xue-Yong Lou
AU - Chao-Chun Zou
AU - Tao Ling
PY - 2026
DA - 2026/10/16
JO - Frontiers in cell and developmental biology
UR - https://europepmc.org/article/PMC/PMC13661550
SN - 2296-634X
ER -