Congenital central hypoventilation syndrome
Definition:
References:
-
[1]. Ayako Sasaki, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003 Dec;114(1):22-6. [Content Brief]
[2]. Jeanne Amiel, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003 Apr;33(4):459-61. [Content Brief]
[3]. Loïc de Pontual, et al. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet. 2003 Dec 1;12(23):3173-80. [Content Brief]
[4]. Luis Rodrigo Hernandez-Miranda, et al. Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13021-13026. [Content Brief]
[5]. Malte Spielmann, et al. Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. J Med Genet. 2017 Nov;54(11):754-761. [Content Brief]
Molarity Calculator
Dilution Calculator
