Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies

Autor:	Le, T. L., Sribudiani, Y., Dong, X., Huber, C., Kois, C., Baujat, G., Gordon, C. T., Mayne, V., Galmiche, L., Serre, V., Goudin, N., Zarhrate, M., Bole-Feysot, C., Masson, C., Nitschke, P., Verheijen, F. W., Pais, L., Pelet, A., Sadedin, S., Pugh, J. A., Shur, N., White, S. M., Chehadeh, S. E., Christodoulou, J., Cormier-Daire, V., Hofstra, R. M. W., Lyonnet, S., Tan, T. Y., Attie-Bitach, T., Kerstjens-Frederikse, W. S., Amiel, J., Thomas, S.
Jazyk:	angličtina
Rok vydání:	2020
Zdroj:	European Journal of Human Genetics, 28(SUPPL 1), 95-96. Nature Publishing Group
ISSN:	1018-4813
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=narcis______::e1c2dd937ca375065c4820eaed1cf9f6 https://research.rug.nl/en/publications/773a0f29-d29b-4988-be18-691723d3eb2b Zobrazit plný text záznamu Full text from SpringerLink