Ontology highlight
ABSTRACT:
SUBMITTER: Perrone E
PROVIDER: S-EPMC6006623 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Perrone Eduardo E Chen Kelin K Ramos Marco M Milanezi Maria Fernanda MF Nakano Viviane V Falconi Ariane A Silva Juliana J Campos Jamille J Silva Celia M C CMC Filho Joao B O JBO Perez Ana B A ABA
Molecular syndromology 20180425 3
Keutel syndrome is caused by mutations in the matrix gamma-carboxyglutamic acid (<i>MGP</i>) gene (OMIM 154870) and is inherited in an autosomal recessive fashion. It is characterized by brachydactyly, pulmonary artery stenosis, a distinctive facial phenotype, and cartilage calcification. To date, only 36 cases have been reported worldwide. We describe clinical and molecular findings of the first Brazilian patient with Keutel syndrome. Keutel syndrome was suspected based on clinical and morpholo ...[more]