Pulmonary hypertension— a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review

BACKGROUND: Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KMT2D muta...

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Detalles Bibliográficos
Autores principales: Deng, Xiao-xian, Jin, Bo-wen, Li, Shan-shan, Zhou, Hong-mei, Shen, Qun-shan, Li, Yun-yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463411/
https://www.ncbi.nlm.nih.gov/pubmed/37641008
http://dx.doi.org/10.1186/s12887-023-04273-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463411/
https://www.ncbi.nlm.nih.gov/pubmed/37641008
http://dx.doi.org/10.1186/s12887-023-04273-x

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