Biomedical subjects

Maria Ines Kavamura

Publications and source records attributed to Maria Ines Kavamura.

3 recordsLinked to original sources

PubMed2006

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders.

Amino Acid Sequence↗

PubMed2003

CFC syndrome.

Explore the source record for details and available documents.

Abnormalities, Multiple↗

PubMed2002

Miliary osteoma of the face: a report of 4 cases and review of the literature.

Osteoma cutis (OC) is a rare disorder characterized by compact bone formation in the dermis and subcutaneous tissue. It is classified in primary and secondary forms according to the presence or absence of previous cutaneous lesions. Miliary osteoma of the face (MOF) is a form of primary OC that generally occurs in middle-aged and older adult women. We report 3 cases of typical MOF and one additional case in a black patient, which to our knowledge has not been described previously.

Aged↗