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Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
OBJECTIVE: SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to de...
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| Foilsithe in: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Galenos Publishing
2020
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7711637/ https://ncbi.nlm.nih.gov/pubmed/32295321 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0001 |
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