article_metadata: 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
article_metadata: 10.3389/fped.2022.1070303
article_metadata: Front Pediatr
article_metadata: 2023 Feb 15;10:1070303.
article_metadata: hirschsprung disease phox2b congenital central hypoventilation syndrome (cchs) genotype–phenotype correlation novel mutation polyalanine sequence
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36874254/
article_metadata: Case Reports
article_metadata: PMC9975566
article_metadata: 36874254
article_metadata: Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
article_metadata: 2023