| First Author | Merla G | Year | 2002 |
| Journal | Hum Genet | Volume | 110 |
| Issue | 5 | Pages | 429-38 |
| PubMed ID | 12073013 | Mgi Jnum | J:78054 |
| Mgi Id | MGI:2183188 | Doi | 10.1007/s00439-002-0710-x |
| Citation | Merla G, et al. (2002) Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet 110(5):429-38 |
| abstractText | Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features. |
