First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

• Váldodahkkit: Imen Rejeb (Dahkki), Houweyda Jilani (Dahkki), Yasmina Elaribi (Dahkki), Syrine Hizem (Dahkki), Lamia Hila (Dahkki), Julia Lauer Zillahrdt (Dahkki), Jamel Chelly (Dahkki), Lamia Benjemaa (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2017-11-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropen...