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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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Detalhes bibliográficos
Publicado no: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 em: BioMed Central 2020
Assuntos:
Acesso em linha: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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