Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T

BACKGROUND: The present study aims to summarize the clinical and genetic characteristics of ZTTK syndrome. METHODS: The clinical and genetic data of a Chinese girl with severe growth and development delay, intellectual disability, and facial features were analyzed. Original articles on ZTTK syndrome...

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Detalles Bibliográficos
Autores principales: Yang, Yu, Xu, Lei, Yu, Zhen, Huang, Hui, Yang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825855/
https://www.ncbi.nlm.nih.gov/pubmed/31557424
http://dx.doi.org/10.1002/mgg3.953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825855/
https://www.ncbi.nlm.nih.gov/pubmed/31557424
http://dx.doi.org/10.1002/mgg3.953

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