LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations

M. Jordan (1) , V. Carmignac (2) , A. Sorlin (1) , P. Kuentz (3) , C. Philippe (1) , P. Vabres (1) , M. Cohort (1)

1 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
2 LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
3 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon

Mots clés: Gene Regulation; Gene Therapy; Genetic Disease

Domaines: Génétique humaine; Dermatologie

M. Jordan, V. Carmignac, A. Sorlin, P. Kuentz, C. Philippe, et al.. LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations. International Investigative Dermatology (IID) Meeting, May 2018, Orlando, United States. pp.B12, ⟨10.1016/j.jid.2018.06.073⟩. ⟨hal-01926199⟩