Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome
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DOI: 10.1002/humu.23365
Abstract: Heterozygous mutations in the PHOX2B gene are causative of congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic control of breathing due to the impaired differentiation of neural crest cells. Among PHOX2B mutations,… read more here.
Keywords: syndromic cchs; congenital central; central hypoventilation; cchs ... See more keywords