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Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age
Short stature (OMIM: 165800) is a common pediatric disorder. Any abnormality in the cartilage formation of the growth plate can cause short stature. Aggrecan, encoded by ACAN, is an important component of the extracellular matrix. Mutations in ACAN have been reported to cause short stature. In the p...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070732/ https://www.ncbi.nlm.nih.gov/pubmed/37025453 http://dx.doi.org/10.3389/fgene.2023.1101695 |