Cold Spring Harbor Molecular Case Studies: Bloom syndrome in a Mexican-American family with rhabdomyosarcoma: evidence of a Mexican founder mutation (Bishop, Chen, Tomlinson)
April 9, 2021
Erin H. Sybouts1,2,11, Adam D. Brown1,2,8,11, Maria G. Falcon-Cantrill3,9,11, Martha H. Thomas1,10, Thomas DeNapoli4,5, Julie Voeller5,6, Yidong Chen1,7, Gail E. Tomlinson1,3 and Alexander J.R. Bishop1,2 Abstract Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and […]
