High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

CONTEXT: Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. OBJECTIVE: To assess the frequency of pathogenic ACAN variants in selected individuals. DESIGN: The single-center cohort study was conducted at a tertiary university children...

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Detalles Bibliográficos
Autores principales: Stavber, L, Hovnik, T, Kotnik, P, Lovrečić, L, Kovač, J, Tesovnik, T, Bertok, S, Dovč, K, Debeljak, M, Battelino, T, Avbelj Stefanija, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087498/
https://www.ncbi.nlm.nih.gov/pubmed/31841439
http://dx.doi.org/10.1530/EJE-19-0771

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087498/
https://www.ncbi.nlm.nih.gov/pubmed/31841439
http://dx.doi.org/10.1530/EJE-19-0771

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