| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2814132 | European Journal of Medical Genetics | 2012 | 4 Pages |
Abstract
⺠We report two males sibs with a mutation in UPF3B. ⺠The two boys had variable degrees of developmental delay. ⺠Both boys had renal dysplasia. ⺠The phenotypically normal mother had 100% skewed X-inactivation.
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Authors
Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, Mary Waldron, Denise McDonald, Jozef Gecz,