Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Hum Genet 136:287-296 (2017)
DOI:10.1007/s00439-016-1756-5

Besnard 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 AC, Carmignac V, Datta AN, Delignieres A, Faivre L, Gardie B, Gueant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamaziere A, Bezieau S, Feillet F, Isidor B

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

Genet Med 21:2025-2035 (2019)
DOI:10.1038/s41436-019-0445-x