Publication
| Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S, 17p112p12 triplication and del(17)q112q12 in a severely affected child with dup(17)p112p12 syndrome Clinical genetics72:47-58 2007 |
| PubMed ID: 17594399 |
|
| Records Return:
(4)
|
|
|
|
|
| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM25581 | Female | 43 YR | 3254 | mother | POTOCKI-LUPSKI SYNDROME; PTLS | GM |
| GM25592 | Female | 22 YR | 3254 | half-sister | POTOCKI-LUPSKI SYNDROME; PTLS | GM |
| GM25582 | Male | 54 YR | 3254 | father | POTOCKI-LUPSKI SYNDROME; PTLS | GM |
| GM25580 | Male | 17 YR | 3254 | proband | POTOCKI-LUPSKI SYNDROME; PTLS | GM |
|
|
|