Publication

Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S, Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet90(3):223-8 2000
PubMed ID: 10678659

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
AG18374Male22 YR2234probandROTHMUND-THOMSON SYNDROME; RTS
AG18375Male22 YR2234probandROTHMUND-THOMSON SYNDROME; RTS