Irina N Artamonova Anna M Zlotina Olga R Ismagilova Tatyana A Levko Natalia Yu Kolbina Aleksandr V Bryzzhin Andrey P Smorodin Alexandr V Borodin Ekaterina A Mamaeva Anna A Sukhotskaya Ilya M Kagantsov Daria A Malysheva Elena S Vasichkina Tatiana M Pervunina Natalia A Petrova
10.3389/fped.2022.1070303
Front Pediatr
2023 Feb 15;10:1070303.
hirschsprung disease phox2b congenital central hypoventilation syndrome (cchs) genotype–phenotype correlation novel mutation polyalanine sequence
CC BY
https://pubmed.ncbi.nlm.nih.gov/36874254/
Case Reports
PMC9975566
36874254
Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
2023