Publication

Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y, Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet22:82-4 1999
PubMed ID: 10319867

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
AG05139Male10 YR818probandROTHMUND-THOMSON SYNDROME; RTS
AG03587Male7 YR545probandROTHMUND-THOMSON SYNDROME; RTS
AG05013Male10 YR probandROTHMUND-THOMSON SYNDROME; RTS