Causative and common PHOX2B variants define a broad phenotypic spectrum
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DOI: 10.1111/cge.13633
Abstract: Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the neural lineages of the autonomic nervous system (ANS), whose coding mutations cause congenital central hypoventilation syndrome (CCHS). The vast majority of… read more here.
Keywords: phenotypic; spectrum; causative common; phox2b variants ... See more keywords