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Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies
BACKGROUND: SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to the heterozygous loss of SHOX in patients wi...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PeerJ Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678493/ https://www.ncbi.nlm.nih.gov/pubmed/33240610 http://dx.doi.org/10.7717/peerj.10236 |