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A Hirschsprung disease locus at 22q11?
We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge sy...
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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BMJ Group
1999
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734323/ https://ncbi.nlm.nih.gov/pubmed/10204849 |
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