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

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TitreBi-allelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Type de publicationJournal Article
Year of Publication2019
AuteursBesnard T., Sloboda N., Goldenberg A., Kury S., Cogne 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, Delignieres A., Faivre L., Gardie B., Gueant J., Kuentz P., Lenglet M., Nassogne M., Ramaekers V., Schnur R.E, Si Y., Torti E., Thevenon J., Vabres P., Maldergem L., Wand D., Wiedemann A., Cariou B., Redon R., Lamaziere A., Bezieau S., Feillet F., Isidor B.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1376-1377
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813