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...

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Vydáno v:Endocrinol Diabetes Metab Case Rep
Hlavní autoři: Gkirgkinoudis, Athanasios, Tatsi, Christina, DeWard, Stephanie J, Friedman, Bethany, Faucz, Fabio R, Stratakis, Constantine A
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2020
Témata:
Unique/Unexpected Symptoms or Presentations of a Disease
On-line přístup: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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