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:

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)

Reference40 articles.

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1. Pseudoainhum und Alopecia universalis;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-09

2. Pseudoainhum and universal alopecia;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-06-23

3. Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants;Frontiers in Neuroscience;2024-05-10

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