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

OBJECTIVE: Hereditary multiple osteochondromas is an autosomal dominant disorder caused by heterozygous pathogenic variants in EXT1 or EXT2. We aimed to evaluate the clinical and molecular findings of a Turkish cohort with hereditary multiple osteochondroma. MATERIALS AND METHODS: Thirty-two patient...

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Detalles Bibliográficos
Autores principales: Güneş, Nilay, Uludağ Alkaya, Dilek, Toylu, Aslı, Özüdoğru, Püren, Çifçi Sunamak, Evrim, Şeker, Ali, Demir, Bilal, Kuruğoğlu, Sebuh, Mıhçı, Ercan, Tüysüz, Beyhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Pediatrics Association 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440955/
https://www.ncbi.nlm.nih.gov/pubmed/37317574
http://dx.doi.org/10.5152/TurkArchPediatr.2023.23011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440955/
https://www.ncbi.nlm.nih.gov/pubmed/37317574
http://dx.doi.org/10.5152/TurkArchPediatr.2023.23011

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