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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang: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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