| Literature DB >> 3351909 |
H Santos1, J Mateus, M J Leal.
Abstract
An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.Entities:
Mesh:
Year: 1988 PMID: 3351909 PMCID: PMC1015489 DOI: 10.1136/jmg.25.3.204
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318