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 |
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Records Return:
(3)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
AG18372 | Female | 42 YR | 2233 | mother | ROTHMUND-THOMSON SYNDROME; RTS | AG |
AG18373 | Female | 42 YR | 2233 | mother | ROTHMUND-THOMSON SYNDROME; RTS | AG |
AG18371 | Male | 12 YR | 2233 | proband | ROTHMUND-THOMSON SYNDROME; RTS | AG |
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