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Article

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.

Frontiers in endocrinology - 1 Jan 2022

Mäkitie Riikka E, Toiviainen-Salo Sanna, Kaitila Ilkka, Mäkitie Outi

Abstract excerpt

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-generation Finnish family with an unusual, autosomal dominant form of osteochondrodysplasia and an empty sella....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35311234
DOI: 10.3389/fendo.2022.845889
PMCID: PMC8927981

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