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Article

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

American journal of respiratory and critical care medicine - 15 Nov 2006

Berry-Kravis Elizabeth M, Zhou Lili, Rand Casey M, Weese-Mayer Debra E

Abstract excerpt

RATIONALE: Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases. OBJECTIVES: To characterize CCHS-associated nonpolyalanine...

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PMID: 16888290
DOI: 10.1164/rccm.200602-305OC

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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.PMID 16888290Read ↗

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Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

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