Disease: Malpuech facial clefting syndrome
- 'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'
- Association of Polymorphisms of <em>MASP1/3</em>, <em>COLEC10</em>, and <em>COLEC11</em> Genes with 3MC Syndrome
- Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?
- Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome
- Biological roles of complement and recent topics in clinical medicine
- Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population
- Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
- Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature
- Malpuech facial clefting syndrome in a Japanese boy with cardiac defects
- Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function
- MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
- Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
- Novel mutation in MASP1 gene in a new family with 3MC syndrome
- Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome
- Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
- The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome