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In a study to elucidate the genetic defects in patients with X-linked mental retardation (XLMR) we performed X chromosome-specific BAC-array-CGH and identified a 0.33 Mb inherited recurrent copy number gain at Xq28 in affected males of four unrelated XLMR families. All aberrations segregate with the...
ORGANISM(S): Homo sapiens 

Study 1
2R01-NS050375 (PI: DOBYNS, William B.)
The genetic basis of mid-hindbrain malformations
Our general goal for this project is to advance our understanding of human developmental disorders that involve the brainstem and cerebellum - brain structures derived from the embryoni...

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