학술논문
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Document Type
Article
Author
Besnard, T.; Küry, S.; Cogné, B.; Breheret, F.; Trochu, E.; Conrad, S.; Vincent, M.; Deb, W.; Bézieau, S.; Isidor, B.; Gardie, B.; Lenglet, M.; Cariou, B.; Redon, R.; Sloboda, N.; Guéant, J.-L.; Wiedemann, A.; Feillet, F.; Goldenberg, A.; Balguerie, X.; Barbarot, S.; Baujat, G.; Ben-Omran, T.; Bursztejn, A.-C.; Carmignac, V.; Faivre, L.; Kuentz, P.; Vabres, P.; Datta, A.N.; Delignières, A.; Nassogne, M.-C.; Ramaekers, V.; Schnur, R.E.; Si, Y.; Torti, E.; Thevenon, J.; Van Maldergem, L.; Wand, D.; Lamazière, A.
Source
In: Genetics in Medicine . (Genetics in Medicine, 1 September 2019, 21(9):2025-2035)
Subject
Language
English
ISSN
15300366
10983600
10983600