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Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

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.

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Detalhes bibliográficos
Main Authors: Santos, H, Mateus, J, Leal, M J
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015489/
https://ncbi.nlm.nih.gov/pubmed/3351909
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