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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

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