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

• 主要な著者: Imen Rejeb (著者), Houweyda Jilani (著者), Yasmina Elaribi (著者), Syrine Hizem (著者), Lamia Hila (著者), Julia Lauer Zillahrdt (著者), Jamel Chelly (著者), Lamia Benjemaa (著者)
• フォーマット: 図書
• 出版事項: BMC, 2017-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...