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A SOX5 gene variant as a possible contributor to short stature
SUMMARY: SOX5 plays an important role in chondrogenesis and chondrocyte differentiation. SOX5 defects in humans (often deletions) result in a Lamb-Shaffer syndrome (LSS), presenting with speech delay, behavioral problems and minor dysmorphic features. We present a patient with idiopathic short statu...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Endocrinol Diabetes Metab Case Rep |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Bioscientifica Ltd
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7774745/ https://ncbi.nlm.nih.gov/pubmed/33434147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0133 |
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