Načítá se...
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...
Uloženo v:
| Vydáno v: | PeerJ |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
PeerJ Inc.
2020
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|