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...

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Detalles Bibliográficos
Autores principales: Lee, Chung-Won, Lee, Jae-Ho, Jung, Eun-Young, Choi, Soon-Ok, Kim, Chun-Soo, Lee, Sang-Lak, Kim, Dae-Kwang
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2011
Materias:
Case Report
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

Internet

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

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