Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)-Reference-Cited by-同舟云学术

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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)

Published:2021-09 Issue:9 Volume:23 Page:1656-1663
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Zhou Amy,Rand Casey M.,Hockney Sara M.,Niewijk Grace,Reineke Patrick,Speare Virginia,Berry-Kravis Elizabeth M.,Zhou Lili,Jennings Lawrence J.,Yu Min,Ceccherini Isabella,Bachetti Tiziana,Pennock Melanie,Yap Kai Lee,Weese-Mayer Debra E.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-021-01178-x.pdf

Reference36 articles.

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability;Archives de Pédiatrie;2024-09

2. Genetic identification of medullary neurons underlying congenital hypoventilation;Science Advances;2024-06-21

3. Loss-of-function of chemoreceptor neurons in the retrotrapezoid nucleus: What have we learned from it?;Respiratory Physiology & Neurobiology;2024-04

4. Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype;Pediatric Research;2024-01-18

5. Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature;Molecular Genetics & Genomic Medicine;2023-09-15

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