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

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...

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Asıl Yazarlar: Imen Rejeb (Yazar), Houweyda Jilani (Yazar), Yasmina Elaribi (Yazar), Syrine Hizem (Yazar), Lamia Hila (Yazar), Julia Lauer Zillahrdt (Yazar), Jamel Chelly (Yazar), Lamia Benjemaa (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: BMC, 2017-11-01T00:00:00Z.
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