Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3

Spondylo-epi-metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been reported to have this condition to date....

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Publicado no:Hum Mutat
Main Authors: Simsek-Kiper, Pelin Ozlem, Jacob, Prince, Upadhyai, Priyanka, Taşkıran, Zihni Ekim, Guleria, Vishal S., Karaosmanoglu, Beren, Imren, Gozde, Gocmen, Rahsan, Bhavani, Gandham S., Kausthubham, Neethukrishna, Shah, Hitesh, Utine, Gulen Eda, Boduroglu, Koray, Girisha, Katta M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2022
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7615863/
https://ncbi.nlm.nih.gov/pubmed/36150098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24478
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