Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Nature genetics - 1 Mar 2011
Rooryck Caroline, Diaz-Font Anna, Osborn Daniel P S, Chabchoub Elyes, Hernandez-Hernandez Victor, Shamseldin Hanan, Kenny Joanna, Waters Aoife, Jenkins Dagan, Kaissi Ali Al, Leal Gabriela F, Dallapiccola Bruno, Carnevale Franco, Bitner-Glindzicz Maria, Lees Melissa, Hennekam Raoul, Stanier Philip, Burns Alan J, Peeters Hilde, Alkuraya Fowzan S, Beales Philip L
Abstract excerpt
3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC...
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