A carregar...
A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
BACKGROUND: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support p...
Na minha lista:
| Publicado no: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7767558/ https://ncbi.nlm.nih.gov/pubmed/33047879 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1528 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|