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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...
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| Veröffentlicht in: | PeerJ |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
PeerJ Inc.
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7678493/ https://ncbi.nlm.nih.gov/pubmed/33240610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.10236 |
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