Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome that is characterized by postnatal growth deficiency, hypotonia, short stature, mild-to-moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads, and distinct facial appearance. It is mainly caused by...

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Detalles Bibliográficos
Autores principales: Yi, Sheng, Zhang, Xiaofei, Yang, Qi, Huang, Jingjing, Zhou, Xunzhao, Qian, Jiale, Pan, Pingshan, Yi, Shang, Zhang, Shujie, Zhang, Qiang, Tang, Xianglian, Huang, Limei, Zhang, Qinle, Qin, Zailong, Luo, Jingsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550629/
https://www.ncbi.nlm.nih.gov/pubmed/37810849
http://dx.doi.org/10.1016/j.heliyon.2023.e20223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550629/
https://www.ncbi.nlm.nih.gov/pubmed/37810849
http://dx.doi.org/10.1016/j.heliyon.2023.e20223

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