Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Nilay Güneş,Dilek Uludağ Alkaya,Aslı Toylu, Püren Özüdoğru,Evrim Çifçi Sunamak,Ali Şeker,Bilal Demir, Sebuh Kuruğoğlu,Ercan Mıhçı,Beyhan Tüysüz

Turkish archives of pediatrics（2023）

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摘要

We report a hereditary multiple osteochondroma cohort with clinical and molecular data including 12 novel intragenic variants in EXT1 or EXT2, and 4 microdeletions involving EXT1. Taken together, our data expand the existing knowledge of the phenotype-genotype spectrum in hereditary multiple osteochondroma.

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关键词

Osteochondroma, exostosis, EXT1, EXT2

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