Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
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
The genetics of isolated and syndromic clubfoot
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Children's Orthopaedics"
DOI: 10.1302/1863-2548.13.190063
Abstract: Abstract Purpose Congenital clubfoot is a serious birth defect that affects nearly 0.1% of all births. Though there is strong evidence for a genetic basis of isolated clubfoot, aside from a handful of associations, much… read more here.
Keywords: clubfoot; genetics isolated; syndromic clubfoot; isolated clubfoot ... See more keywords