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Article

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.

Pediatric research - 1 Feb 2018

Genoni Giulia, Monzani Alice, Castagno Matteo, Ricotti Roberta, Rapa Anna, Petri Antonella, Babu Deepak, Giordano Mara, Prodam Flavia, Bona Gianni, Bellone Simonetta

Abstract excerpt

BackgroundThe aim of this study was to estimate the prevalence of haploinsufficiency of short stature homeobox containing gene (SHOX) deficiency (SHOXD) in a population of short-statured children, and to analyze their phenotype and the performance of clinical scores.MethodsScreening for SHOXD was performed in 281 children with short stature by direct sequencing and multiplex ligation probe-dependent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29211059
DOI: 10.1038/pr.2017.247

Genes

SDS
SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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