Article
Atypical progeroid syndrome: an unknown helicase gene defect?
American journal of medical genetics. Part A - 30 Jan 2003
Ruijs M W G, van Andel R N J, Oshima J, Madan K, Nieuwint A W M, Aalfs C M
Abstract excerpt
We describe a boy with chromosomal breakage syndrome, who died of hepatocellular carcinoma at the age of 17 years. Other findings included growth retardation, bilateral cataracts, premature graying of hair and elevated levels of urinary hyaluronic acid. Intellectual functions were normal. Although some manifestations were suggestive of Werner syndrome, the diagnosis could not be confirmed by molecular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.