Article
Health supervision for people with Bloom syndrome.
American journal of medical genetics. Part A - 1 Sept 2018
Cunniff Christopher, Djavid Amir Reza, Carrubba Steven, Cohen Bernard, Ellis Nathan A, Levy Carolyn Fein, Jeong Stacy, Lederman Howard M, Vogiatzi Maria, Walsh Michael F, Zauber Ann Graham
Abstract excerpt
Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are...
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