Associated Papers
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA et al.
Nature, 2023
Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Mei M et al.
Translational Pediatrics, 2021
Novel PHOX2B mutations in congenital central hypoventilation syndrome.
Sasaki A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
Di Lascio S et al.
Human Mutation, 2018
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S et al.
Pediatric Blood & Cancer, 2016
[Congenital central hypoventilation syndrome, report of three cases].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
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