Bannayan-Ruvalcaba-Riley syndrome

A rare autosomal dominant MIM 153480 syndrome characterised by subcutaneous lipomas, haemangiomas, macrocephaly, macrosomy, hypotonia, delayed gross motor and/or speech development, mental retardation, proximal muscle myopathy, and hereditary colorectal cancer. BRR syndrome is one of the hamartomatous polyposis syndromes, including Peutz-Jeghers disease, juvenile polyposis and Cowden syndrome. BRR is caused by a mutation in Phosphatase and tensin (PTEN), a gene on chromosome 10q23.3, which encodes PTEN homolog, a protein that acts as a tumour-suppressor.

单词	bannayan-ruvalcaba-riley syndrome
释义	Bannayan-Ruvalcaba-Riley syndrome Bannayan-Ruvalcaba-Riley syndrome A rare autosomal dominant MIM 153480 syndrome characterised by subcutaneous lipomas, haemangiomas, macrocephaly, macrosomy, hypotonia, delayed gross motor and/or speech development, mental retardation, proximal muscle myopathy, and hereditary colorectal cancer. BRR syndrome is one of the hamartomatous polyposis syndromes, including Peutz-Jeghers disease, juvenile polyposis and Cowden syndrome. BRR is caused by a mutation in Phosphatase and tensin (PTEN), a gene on chromosome 10q23.3, which encodes PTEN homolog, a protein that acts as a tumour-suppressor.
随便看	easter head easter holiday(s) east erie commercial railroad east erie turners easter island easter island, chile - mataveri easter islander easter island head easter island heads easter islands easter island's statues easter island statue easter island statue project easter island statues easter island syndrome easter isle easter jeep safari easter-ledges easterlies easter lilies easter lily easter lily (flower) easter lily vine easterling easterlings