A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband...

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Detalles Bibliográficos
Autores principales: Uchida, Noboru, Shibata, Hironori, Nishimura, Gen, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712780/
https://www.ncbi.nlm.nih.gov/pubmed/33298914
http://dx.doi.org/10.1038/s41439-020-00132-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712780/
https://www.ncbi.nlm.nih.gov/pubmed/33298914
http://dx.doi.org/10.1038/s41439-020-00132-8

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