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A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report
ACAN variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of ACAN defects in a 9 year, 5 month-old girl born small for gestational age (SGA), who presented with short stature, and was i...
Autores principales: | Kim, Su Ji, Yoon, Jong Seo, Hwang, Il Tae |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724056/ https://www.ncbi.nlm.nih.gov/pubmed/34210114 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0081 |
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