Associated Papers
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 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
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
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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