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SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

BACKGROUND: The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children. METHODS: Molecular analy...

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Publicado en:Ital J Pediatr
Main Authors: Vannelli, Silvia, Baffico, Maria, Buganza, Raffaele, Verna, Francesca, Vinci, Giulia, Tessaris, Daniele, Di Rosa, Gianpaolo, Borraccino, Alberto, de Sanctis, Luisa
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7640664/
https://ncbi.nlm.nih.gov/pubmed/33143726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00927-z
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