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Article

Pediatric disorders with autonomic dysfunction: what role for PHOX2B?

Pediatric research - 1 Jul 2005

Gaultier Claude, Trang Ha, Dauger Stéphane, Gallego Jorge

Abstract excerpt

Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome can occur in combination, and familial cases have been reported in all three conditions. This suggests variable expression of a single genetic abnormality as the common cause to these neural crest disorders. Because the PHOX2B gene is pivotal in the development of most relays of the autonomic nervous system, including all...

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Genes, Dominant
Germ-Line Mutation
Hirschsprung Disease
Homeodomain Proteins
Neural Crest

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sleep Apnea, Central

Sudden Infant Death

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PMID: 15901893
DOI: 10.1203/01.PDR.0000166755.29277.C4

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Pediatric disorders with autonomic dysfunction: what role for PHOX2B?PMID 15901893Read ↗

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