Associated Papers
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M et al.
Clinical Genetics, 2024
Genetics and early disturbances of breathing control.
Gaultier C et al.
Pediatric Research, 2004
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
de Pontual L et al.
Human Molecular Genetics, 2003
Select a paper to view details