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Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its dia...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031022/ https://www.ncbi.nlm.nih.gov/pubmed/21286029 http://dx.doi.org/10.3346/jkms.2011.26.2.312 |