Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature

Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in both the growth plate and articular cartilage. Aggrecanopathies have emerged as a phenotyp...

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Detalles Bibliográficos
Autores principales: Kim, Tae Youp, Jang, Kyung Mi, Keum, Chang Won, Oh, Seung Hwan, Chung, Woo Yeong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788345/
https://www.ncbi.nlm.nih.gov/pubmed/32871652
http://dx.doi.org/10.6065/apem.1938198.099

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788345/
https://www.ncbi.nlm.nih.gov/pubmed/32871652
http://dx.doi.org/10.6065/apem.1938198.099

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