Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.

Hiromi TobaiMikiya EndoMasataka IshimuraKunihiko MoriyaJun YanoKeita KanamoriNorio SatoFumitaka AmanumaHidekazu MaruyamaHideki MuramatsuJunji ShibaharaMasami NaritaSeiko FumotoDaniel PeltierShouichi Ohga

Published in: Pediatric blood & cancer (2023)

Keyphrases

copy number
case report
genome wide