RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects

BACKGROUND: There are limited information available related to neonatal characteristics of RASopathies, a group of autosomal dominant syndromes with considerable phenotypic overlap. METHODS: The retrospective review revealed 9 neonates born with congenital heart defects (CHDs) and diagnosed as RASop...

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Detalles Bibliográficos
Autores principales: Zheng, Simin, Huang, Huanyang, Ma, Li, Zhu, Tianwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9400306/
https://www.ncbi.nlm.nih.gov/pubmed/36002837
http://dx.doi.org/10.1186/s12920-022-01336-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9400306/
https://www.ncbi.nlm.nih.gov/pubmed/36002837
http://dx.doi.org/10.1186/s12920-022-01336-3

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