In this study we describe the detection of a de novo 1.24 Mb microduplication at 5q35.1 in a 19-year-old boy with HPE and preaxial polydactyly using a genome-wide tiling path resolution microarray.

Scientists from Cleveland, Ohio, and Paris, France, reached an important milestone in understanding a molecular cause of a rare, but serious birth defect, Holoprosencephaly. In this February's FASEB ...

Reprint from Mental retardation and developmental disabilities research reviews, vol. 6, pages 15-21 (2000). SCDIRB has two copies: c. 1 (39088019634443) and c. 2 (39088019634401). SCDIRB c. 1 and c.

If the cerebral hemispheres of the forebrain fail to divide properly in an unborn child, this results in holoprosencephaly. An MDC team led by Annette Hammes has discovered candidate genes that can ...

Homer's Cyclops might be myth, but a disorder that can cause babies to be born with only one eye is very real. Scientists from Cleveland, Ohio, and Paris, France, reached an important milestone in ...