A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review

BACKGROUND: Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approximately 1%–3% of cases in children. An increasing number of gene defects have been demonstrated to be associated with GDD; up to now, only limited studies have reported developmenta...

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Detalles Bibliográficos
Autores principales: Zhang, Jinhong, Lu, Yan, Tian, Xiaoyu, Men, Xinyi, Zhang, Yange, Yan, Huifang, Yang, Fan, Yang, Zuozhen, Wang, Xiuxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544213/
https://www.ncbi.nlm.nih.gov/pubmed/35962600
http://dx.doi.org/10.1002/mgg3.2036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544213/
https://www.ncbi.nlm.nih.gov/pubmed/35962600
http://dx.doi.org/10.1002/mgg3.2036

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