Publication
| Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG, Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet36(4):411-6 2004 |
| PubMed ID: 15004558 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM10283 | Male | 15 YR | 3197 | proband | HYPERGLYCEROLEMIA | GM |
| GM07947 | Male | 14 YR | | proband | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | GM |
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