Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient

BACKGROUND: Zhu‐Tokita‐Takenouchi‐Kim (ZTTK, OMIM 617140) syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, cortical malformations, epilepsy, visual problems, musculoskeletal abnormalities, and congenital malformations. ZTTK syndro...

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Detalles Bibliográficos
Autores principales: Tang, Shuo, You, Jieyu, Liu, Li, Ouyang, Hongjuan, Jiang, Na, Duan, Jiaqi, Li, Canlin, Luo, Yanhong, Zhang, Wenting, Zhan, Meizheng, Liu, Chenxi, Lyu, Gui‐Zhen, Zhang, Victor Wei, Zhao, Hongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422072/
https://www.ncbi.nlm.nih.gov/pubmed/37488749
http://dx.doi.org/10.1002/mgg3.2188

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