Ontology highlight
ABSTRACT:
SUBMITTER: Di Lascio S
PROVIDER: S-EPMC5846889 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Di Lascio Simona S Benfante Roberta R Di Zanni Eleonora E Cardani Silvia S Adamo Annalisa A Fornasari Diego D Ceccherini Isabella I Bachetti Tiziana T
Human mutation 20171121 2
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, polyalanine (polyAla) expansions are almost exclusively associated with isolated CCHS, whereas frameshift variants, although less frequent, are often more severe than polyAla expansions and identified in syndromic CCHS. This arti ...[more]