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Biallelic pathogenic variants in the lanosterol synthase ge..:
Besnard, Thomas
;
Sloboda, Natacha
;
Goldenberg, Alice
...
Genetics in Medicine. 21 (2019) 9 - p. 2025-2035 , 2019
Link:
https://doi.org/10.1038/s41436-019-0445-x
RT Journal T1
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-019-0445-x&Exemplar=1&LAN=DE A1 Besnard, Thomas A1 Sloboda, Natacha A1 Goldenberg, Alice A1 Küry, Sébastien A1 Cogné, Benjamin A1 Breheret, Flora A1 Trochu, Eva A1 Conrad, Solène A1 Vincent, Marie A1 Deb, Wallid A1 Balguerie, Xavier A1 Barbarot, Sébastien A1 Baujat, Geneviève A1 Ben-Omran, Tawfeg A1 Bursztejn, Anne-Claire A1 Carmignac, Virginie A1 Datta, Alexandre N. A1 Delignières, Aline A1 Faivre, Laurence A1 Gardie, Betty A1 Guéant, Jean-Louis A1 Kuentz, Paul A1 Lenglet, Marion A1 Nassogne, Marie-Cécile A1 Ramaekers, Vincent A1 Schnur, Rhonda E. A1 Si, Yue A1 Torti, Erin A1 Thevenon, Julien A1 Vabres, Pierre PB Elsevier BV YR 2019 SN 1098-3600 JF Genetics in Medicine VO 21 IS 9 SP 2025 OP 2035 LK http://dx.doi.org/https://doi.org/10.1038/s41436-019-0445-x DO https://doi.org/10.1038/s41436-019-0445-x SF ELIB - SuUB Bremen
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