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

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Elyes Chabchoub, Víctor Hernández-Hernández, Hanan E. Shamseldin, Janna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi,

Nature Genetics · 2011 · 263 citations · 22 references

Concepts

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