First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0493-5.pdf
Reference11 articles.
1. Cohen MM Jr, Hall BD, Smith DW, Graham CB, Lampert KJA. New syndrome with hypotonia, obesity, mental deficiency and facial, oral, ocular and limb anomalies. J Pediatr. 1973;83:280–4.
2. Norio R, Raitta C, Lindahl E. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet. 1984;25:1–14.
3. Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. Cohen syndromeassociated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011;286:37665–75.
4. Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, et al. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mut. 2009;30:E404–20.
5. Poirier K, Lebrun N, Broix L, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013;45:639–47.
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