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A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability.
Pelleter M, Desaintjean C, Gyapay R, Massenavette B, Baudin F, Couque N, Tamisier R, Dudoignon B, Franco P, Mougenel-Chantereau A, Coutier L. Pelleter M, et al. Among authors: gyapay r. Arch Pediatr. 2024 Oct;31(7):470-472. doi: 10.1016/j.arcped.2024.06.003. Epub 2024 Sep 10. Arch Pediatr. 2024. PMID: 39261201
Role of polysomnography in the management of obstructive sleep apnea during the first year of life in robin sequence: A prospective and longitudinal study.
Coutier L, Gyapay R, Guyon A, Thieux M, Pouyau R, Blanc S, Ayari S, Griffon L, Giuseppi A, Adnot P, Aubin A, Fauroux B, Abadie V, Franco P. Coutier L, et al. Among authors: gyapay r. Sleep Med. 2024 Nov 29;126:73-81. doi: 10.1016/j.sleep.2024.11.041. Online ahead of print. Sleep Med. 2024. PMID: 39642651