Articles with "novel osteochondrodysplasia" as a keyword



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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant

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Published in 2022 at "Frontiers in Endocrinology"

DOI: 10.3389/fendo.2022.845889

Abstract: 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… read more here.

Keywords: empty sella; osteochondrodysplasia empty; skeletal dysplasias; sella ... See more keywords