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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Hlavní autoři: Santos, H, Mateus, J, Leal, M J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1988
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015489/
https://ncbi.nlm.nih.gov/pubmed/3351909
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