Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Research"
DOI: 10.1038/pr.2017.247
Abstract: 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… read more here.
Keywords: rappold score; growth velocity; growth; shox deficiency ... See more keywords
Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0419
Abstract: Abstract We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders… read more here.
Keywords: shox deficiency; case; dyschondrosteosis; thyroiditis ... See more keywords