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

• Main Authors: Imen Rejeb (Author), Houweyda Jilani (Author), Yasmina Elaribi (Author), Syrine Hizem (Author), Lamia Hila (Author), Julia Lauer Zillahrdt (Author), Jamel Chelly (Author), Lamia Benjemaa (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: 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...