Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
- DOI
- 10.1038/s41436-019-0445-x
- Published
- 2019-09
- Container
- Genetics in Medicine
- Publisher
- Elsevier BV
- Open access
- unknown
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BibTeX
@article{allodium:10.1038/s41436-019-0445-x,
title = {Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome},
author = {Thomas Besnard and Natacha Sloboda and Alice Goldenberg and Sébastien Küry and Benjamin Cogné and Flora Breheret and Eva Trochu and Solène Conrad and Marie Vincent and Wallid Deb and Xavier Balguerie and Sébastien Barbarot and Geneviève Baujat and Tawfeg Ben-Omran and Anne-Claire Bursztejn and Virginie Carmignac and Alexandre N. Datta and Aline Delignières and Laurence Faivre and Betty Gardie and Jean-Louis Guéant and Paul Kuentz and Marion Lenglet and Marie-Cécile Nassogne and Vincent Ramaekers and Rhonda E. Schnur and Yue Si and Erin Torti and Julien Thevenon and Pierre Vabres and Lionel Van Maldergem and Dorothea Wand and Arnaud Wiedemann and Bertrand Cariou and Richard Redon and Antonin Lamazière and Stéphane Bézieau and Francois Feillet and Bertrand Isidor},
year = {2019},
journal = {Genetics in Medicine},
doi = {10.1038/s41436-019-0445-x},
url = {https://doi.org/10.1038/s41436-019-0445-x}
}RIS
TY - JOUR TI - Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome AU - Thomas Besnard AU - Natacha Sloboda AU - Alice Goldenberg AU - Sébastien Küry AU - Benjamin Cogné AU - Flora Breheret AU - Eva Trochu AU - Solène Conrad AU - Marie Vincent AU - Wallid Deb AU - Xavier Balguerie AU - Sébastien Barbarot AU - Geneviève Baujat AU - Tawfeg Ben-Omran AU - Anne-Claire Bursztejn AU - Virginie Carmignac AU - Alexandre N. Datta AU - Aline Delignières AU - Laurence Faivre AU - Betty Gardie AU - Jean-Louis Guéant AU - Paul Kuentz AU - Marion Lenglet AU - Marie-Cécile Nassogne AU - Vincent Ramaekers AU - Rhonda E. Schnur AU - Yue Si AU - Erin Torti AU - Julien Thevenon AU - Pierre Vabres AU - Lionel Van Maldergem AU - Dorothea Wand AU - Arnaud Wiedemann AU - Bertrand Cariou AU - Richard Redon AU - Antonin Lamazière AU - Stéphane Bézieau AU - Francois Feillet AU - Bertrand Isidor PY - 2019 JO - Genetics in Medicine DO - 10.1038/s41436-019-0445-x UR - https://doi.org/10.1038/s41436-019-0445-x ER -
APA
Besnard, T., Sloboda, N., Goldenberg, A., Küry, S., Cogné, B., Breheret, F., Trochu, E., Conrad, S., Vincent, M., Deb, W., Balguerie, X., Barbarot, S., Baujat, G., Ben-Omran, T., Bursztejn, A., Carmignac, V., Datta, A. N., Delignières, A., Faivre, L., Gardie, B., Guéant, J., Kuentz, P., Lenglet, M., Nassogne, M., Ramaekers, V., Schnur, R. E., Si, Y., Torti, E., Thevenon, J., Vabres, P., Maldergem, L. V., Wand, D., Wiedemann, A., Cariou, B., Redon, R., Lamazière, A., Bézieau, S., Feillet, F., & Isidor, B. (2019). Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Genetics in Medicine. https://doi.org/10.1038/s41436-019-0445-x
Source records
- crossref · retrieved 2026-09-27T15:36:20.798Z