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Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.
We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4). WS4 is characterized...
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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Public Library of Science (PLoS)
2013-01-01
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| Reeks: | PLoS ONE |
| Online toegang: | http://europepmc.org/articles/PMC3694150?pdf=render |
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