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Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?
Chitayat D, Moore L, Del Bigio MR, MacGregor D, Ben-Zeev B, Hodgkinson K, Deck J, Stothers T, Ritchie S, Toi A. Chitayat D, et al. Among authors: del bigio mr. Am J Med Genet. 1994 Oct 1;52(4):406-15. doi: 10.1002/ajmg.1320520404. Am J Med Genet. 1994. PMID: 7538262
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,; Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. Frosk P, et al. Among authors: del bigio mr. J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6. J Med Genet. 2017. PMID: 28264986 Free PMC article.
257 results