ArticleNeurology. Genetics2025
Homozygous
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare breathing disorder, predominantly caused by deleterious alterations in the Methods: We conducted a 10-year follow-up, including a clinical evaluation, polysomnography, brain MRI, analyses of blood and CSF, electrodiagnostic testing, and comprehensive genetic analyses including trio-whole exome sequencing (trio-WES). Results: In a female patient necessitating artificial ventilation immediately postnatally, trio-WES revealed a homozygous deleterious variant in the candidate gene Discussion: Dbx1 (developing brain homeobox 1) has an established critical role for mammalian inspiration, dramatically illustrated by the rapid postnatal demise of Dbx1 null mice because of asphyxia. Here, we describe the first human patient with atypical CCHS harboring a deleterious variant in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.