Aase-Smith syndrome type IIiamond-Blackfan anemia (DBA) is a rare form of pure red cell aplasia, typically presenting in infancy. Hematologic findings often include macrocytosis,
therapy for atherosclerosis and coronary artery disease in these patients becomes more effective, more progeria patients may be identified with malignancy. CHARLES R. KING,
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and
0521797217txtIntroduction Williams syndrome and Smith-Magenis syndrome are both rare, genetically determined conditions with an assumed prevalence of 1 in 25 000 live births,