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)
|
|
|
|
|
| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| AG05139 | Male | 10 YR | 818 | proband | ROTHMUND-THOMSON SYNDROME; RTS | AG |
| AG03587 | Male | 7 YR | 545 | proband | ROTHMUND-THOMSON SYNDROME; RTS | AG |
| AG05013 | Male | 10 YR | | proband | ROTHMUND-THOMSON SYNDROME; RTS | AG |
|
|
|