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.

Fetal magnetic resonance imaging (MRI) can reliably spot holoprosencephaly as early as 18 gestational weeks, providing an opportunity to counsel families earlier in their pregnancy, according to ...

Holoprosencephaly is a condition characterized by the failure of embryonic forebrain, called prosencephalon. The forebrain fails to divide into the double lobes of the cerebral hemisphere. As a result ...

Fetal magnetic resonance imaging can reliably spot holoprosencephaly as early as 18 gestational weeks, providing an opportunity to counsel families earlier in their pregnancy, according to new ...

Cyclopia is a rare condition that causes a child to be born with one eye, no nose, and a proboscis (a nose-like growth) above the eye. It's caused by a severe malformation of the baby’s brain early in ...

BRITISH teen Nora Quoirin was tragically found dead in the Malaysian jungle on August 13 after she was reported missing a week earlier. Nora suffered from holoprosencephaly - but what is the disease, ...

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.