Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

BACKGROUND: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin complement pathway enzymes MASP-1 and MASP-3, have thus far been reported to c...

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Detalles Bibliográficos
Autores principales: Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589207/
https://www.ncbi.nlm.nih.gov/pubmed/26419238
http://dx.doi.org/10.1186/s13023-015-0345-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589207/
https://www.ncbi.nlm.nih.gov/pubmed/26419238
http://dx.doi.org/10.1186/s13023-015-0345-3

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