Article
Phenotypic and molecular variability of the holoprosencephalic spectrum.
American journal of medical genetics. Part A - 15 Aug 2004
Lazaro Leila, Dubourg Christéle, Pasquier Laurent, Le Duff Franck, Blayau Martine, Durou Marie-Renée, de la Pintière Armelle Thomas, Aguilella Céline, David Véronique, Odent Sylvie
Abstract excerpt
Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among...
Topics
- Adult
- Brain
- Child
- Endocrine System
- Eye Proteins
- Female
- Fetus
- Gastrointestinal Tract
- Hedgehog Proteins
- Holoprosencephaly
- Homeodomain Proteins