Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome-Reference-Cited by-同舟云学术

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Published:2019-09 Issue:9 Volume:21 Page:2025-2035
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Besnard Thomas,Sloboda Natacha,Goldenberg Alice,Küry Sébastien,Cogné Benjamin,Breheret Flora,Trochu Eva,Conrad Solène,Vincent Marie,Deb Wallid,Balguerie Xavier,Barbarot Sébastien,Baujat Geneviève,Ben-Omran Tawfeg,Bursztejn Anne-Claire,Carmignac Virginie,Datta Alexandre N.,Delignières Aline,Faivre Laurence,Gardie Betty,Guéant Jean-Louis,Kuentz Paul,Lenglet Marion,Nassogne Marie-Cécile,Ramaekers Vincent,Schnur Rhonda E.,Si Yue,Torti Erin,Thevenon Julien,Vabres Pierre,Van Maldergem Lionel,Wand Dorothea,Wiedemann Arnaud,Cariou Bertrand,Redon Richard,Lamazière Antonin,Bézieau Stéphane,Feillet Francois,Isidor Bertrand

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0445-x.pdf

Reference40 articles.

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