[Respiratory phenotype analyses of mice carrying an invalidated Phox2b allele (Phox2b+/- mutant mice) or the Phox2b mutation (+7 alanine expansion) found in patients with CCHS (Phox2b(27Ala/+) mice) have shed light on the role for PHOX2B in breathing control and on the pathophysiological mechanisms underlying CCHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE