A SOX5 gene variant as a possible contributor to short stature
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 stature (ISS)...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2020-12-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM20-0133.xml |