| Literature DB >> 1619642 |
Abstract
Two sibs with the branchio-oculo-facial syndrome are reported. They both have orbital haemangiomatous cysts, which is a previously unreported feature. Both parents are clinically normal and unrelated. This disorder has been reported showing autosomal dominant transmission so this family could represent either an autosomal recessive form or germline mosaicism for the dominant gene.Entities:
Mesh:
Year: 1992 PMID: 1619642 PMCID: PMC1015999 DOI: 10.1136/jmg.29.6.430
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318