Ontology highlight
ABSTRACT:
SUBMITTER: Gibbons RJ
PROVIDER: S-EPMC3475406 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Cold Spring Harbor perspectives in medicine 20121001 10
This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities including mental retardation. The third condition, ATMDS, is an acquired disorder in wh ...[more]