Publication

Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE, Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet71(1):165-7 2002
PubMed ID: 12016592

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
AG18372Female42 YR2233motherROTHMUND-THOMSON SYNDROME; RTS
AG18373Female42 YR2233motherROTHMUND-THOMSON SYNDROME; RTS
AG18371Male12 YR2233probandROTHMUND-THOMSON SYNDROME; RTS