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pro vyhledávání: '"Vishal S. Guleria"'
Autor:
Pelin Ozlem Simsek‐Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S. Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S. Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M. Girisha
Publikováno v:
Human mutationREFERENCES. 43(12)
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 h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d278ee2aabaf5737d472f7a392903f
https://pubmed.ncbi.nlm.nih.gov/36150098
https://pubmed.ncbi.nlm.nih.gov/36150098
