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quand les biologistes font de la bioinformatique !

New mosaic discovery! x.com/ClementSalvian…

"Compassionate use of everolimus for refractory epilepsy in a patient with MTOR #mosaic mutation" Despite good rationale, #everolimus (used in #TSC) was not efficient in controlling severe seizures in a patient with hypomelanosis of Ito. Genetics & Genomics sciencedirect.com/science/articl…

#DocTocToc 6 ans. Tache hyperpigmentée présente depuis la naissance, unilatérale sur plusieurs dermatomes, bord bien limité , grandit avec l'enfant. Jamais montré à un dermatologue. Mosaïsme pigmentaire?

Karolinska Institutet

Excited to join the 2nd day of the #DermGenomics2020 course - Prof. Veronica Kinsler @KinslerLab kicked off with a great talk on mosaic disorders in dermatology! Thanks for organising this virtual event Sara 💙💛 🇺🇦 david kelsell Edel O'Toole Neil Rajan Wellcome Connecting Science Courses and Conference

Maladies Rares Info Services Le centre constitutif MAGEC-Mosaïques de Dijon (filière FIMARAD) prend spécifiquement en charge les patients atteints de naevus sébacé et de syndrome de Schimmelpenning. Il mène des travaux de recherche sur ces affections dans l'équipe The Mosaic Team - "Les Mosaïstes Associés"

Actualités sur le mosaïcisme cutané à la journée annuelle @Fimarad

Ever been in a Paris lab ?

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials onlinelibrary.wiley.com/doi/10.1111/cg…

Pas question.

CLOVES Syndrome Community and AllStripes are partnering to create a database that will enable multiple new PIK3CA-related overgrowth spectrum (PROS) research projects! 🔬🧬 For more information and to participate visit allstripes.com/pros

Mosaic tattoos. bbc.com/news/uk-englan…

Blaschko's lines as Chinese traditional meridians? That should please Rudi...

Just published: 🇫🇷 RCT of sirolimus in slow-flow venous and lymphatic vascular malformations in children. ISSVA CLOVES Syndrome Community @PROS_PIK3CA VASCERN @GroupVascular KT Foundation K-T Support Group Society for PedsDerm Lymphangioma Blog Société Française de Dermatologie Pédiatrique

An update on the treatment of PI3KCA-related overgrowth spectrum bit.ly/3uuYObW Pierre Vabres (moi/je) Marc Bardou #Genetics

#ISSVA is pleased to announce that the ISSVA World Congress 2022 (formerly the Workshop) will be held in a hybrid in-person / virtual format. Save the Dates! 10-13 May 2022 in Vancouver, Canada; learn more at: issva.org/2022 #VascularAnomalies

Identical twins carry genetic modifications no one else has. science.org/content/articl…