Ontology highlight
ABSTRACT:
SUBMITTER: Gajek G
PROVIDER: S-EPMC7432537 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Gajek Gabriela G Świerzko Anna S AS Cedzyński Maciej M
International journal of molecular sciences 20200731 15
The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the <i>MASP1/3</i>, <i>COLEC1,1</i> or <i>COLEC10</i> genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in <i>MASP-1/3</i>, 12 mutations in <i>COLEC11</i> and three in <i>COLEC10</i> associated with 3MC syndrome have been identified. Their products play an essential role as fac ...[more]