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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are still incompletely understood. We report a three-ge...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8927981/ https://www.ncbi.nlm.nih.gov/pubmed/35311234 http://dx.doi.org/10.3389/fendo.2022.845889 |