Nathalie Couque

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

S. Julia, A. Afenjar, F. Lecoquierre, 2024, Journal of medical genetics.

A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability.

R. Tamisier, L. Coutier, B. Dudoignon, 2024, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Dyspnea in young subjects with congenital central hypoventilation syndrome.

B. Matrot, P. Bokov, B. Dudoignon, 2024, Pediatric research.