Article
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
Journal of medical genetics - 1 Jun 1997
Kang S, Allen J, Graham J M, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schäffer A, Abbott M, Biesecker L G
Abstract excerpt
Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical characterisat...
Topics
- Abnormalities, Multiple
- Anus, Imperforate
- Chromosome Mapping
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Hamartoma
- Humans
- Hypothalamic Diseases
- Infant
- Larynx
- Magnetic Resonance Imaging
- Male
- Pedigree
- Phenotype