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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...

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Detalles Bibliográficos
Autores principales:	Mäkitie, Riikka E., Toiviainen-Salo, Sanna, Kaitila, Ilkka, Mäkitie, Outi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
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

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