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Article

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

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

Bachetti Tiziana, Robbiano Angela, Parodi Sara, Matera Ivana, Merello Elisa, Capra Valeria, Baglietto Maria Pia, Rossi Andrea, Ceccherini Isabella, Ottonello Giancarlo

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absence of automatic control of respiration; decreased sensibility to hypoxia and hypercapnia, mainly during sleep; and autosomal dominant inheritance due to heterozygous polyalanine expansions and frameshift mutations in the PHOX2B gene. Because the CCHS phenotype could hide other neurologic diseases, the American...

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PMID: 16763219
DOI: 10.1164/rccm.200602-266CR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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