Pelleter M, Desaintjean C, Gyapay R, Massenavette B, et al. A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability. Arch Pediatr 2024 Sep 10:S0929-693X(24)00130.
PMID: 39261201