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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

American journal of respiratory and critical care medicine - 15 Mar 2010

Weese-Mayer Debra E, Berry-Kravis Elizabeth M, Ceccherini Isabella, Keens Thomas G, Loghmanee Darius A, Trang Ha

Abstract excerpt

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation. PURPOSE: (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS phenotype, and (3) to provide an update on recommendations for...

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Abnormalities, Multiple
Electrophoresis, Polyacrylamide Gel
Homeodomain Proteins
Hypoventilation
Respiration, Artificial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Societies, Medical

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PMID: 20208042
DOI: 10.1164/rccm.200807-1069ST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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