| Literature DB >> 8071979 |
S Rudnik-Schöneborn1, K Zerres.
Abstract
We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.Entities:
Mesh:
Year: 1994 PMID: 8071979 PMCID: PMC1049932 DOI: 10.1136/jmg.31.6.497
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318