Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

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, craniosyn...

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Veröffentlicht in:	Nature Genetics 2011-03, Vol.43 (3), p.197
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
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