Associated Papers
Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.
Agaoglu NB et al.
Molecular Syndromology, 2021
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
Gajek G et al.
International Journal of Molecular Sciences, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
Gardner OK et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017
Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.
Pihl R et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Urquhart J et al.
American Journal of Medical Genetics. Part A, 2016
Components of the lectin pathway of complement activation in paediatric patients of intensive care units.
Świerzko AS et al.
Immunobiology, 2016
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Atik T et al.
Orphanet Journal of Rare Diseases, 2015
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Sirmaci A et al.
American Journal of Human Genetics, 2010
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