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Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
3MC syndrome has been proposed as a unifying term to integrate the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders of unknown cause comprise a spectrum of developmental features including characteristic facial dysmorphism, cleft lip and/or...
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Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2011
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3045628/ https://ncbi.nlm.nih.gov/pubmed/21258343 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.757 |
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