Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing

Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this...

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Detalles Bibliográficos
Autores principales: Li, Shuolin, Liu, Jing, Yuan, Yuan, Lu, Aizhen, Liu, Fang, Sun, Li, Shen, Quanli, Wang, Libo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459111/
https://www.ncbi.nlm.nih.gov/pubmed/36090579
http://dx.doi.org/10.3389/fped.2022.933693

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459111/
https://www.ncbi.nlm.nih.gov/pubmed/36090579
http://dx.doi.org/10.3389/fped.2022.933693

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