A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability-Reference-Cited by-同舟云学术

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A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability

Published:2024-09 Issue: Volume: Page:
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:en
Short-container-title:Archives de Pédiatrie

Author:

Pelleter Morgane,Desaintjean Charlène,Gyapay Romane,Massenavette Bruno,Baudin Florent^ORCID,Couque Nathalie^ORCID,Tamisier Renaud^ORCID,Dudoignon Benjamin,Franco Patricia,Mougenel-Chantereau Antoine,Coutier Laurianne

Publisher

Elsevier BV

Reference10 articles.

1. Variable phenotype in a novel mutation in PHOX2B;Lombardo;Am J Med Genet A,2017

2. Neurocristopathy: its growth and development in 20 years;Bolande;Pediatr Pathol Lab Med,1997

3. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome;Cain;Am J Med Genet A,2017

4. Causative and common PHOX2B variants define a broad phenotypic spectrum;Bachetti;Clin Genet,2020

5. Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS);Zhou;Genet Med,2021

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