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 wit...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PeerJ Inc.
2020-11-01
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| Series: | PeerJ |
| Subjects: | |
| Online Access: | https://peerj.com/articles/10236.pdf |