Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. In this study, we described the diagnostic courses, clinical and genetic characteristics and prenatal diagnosis of a co...

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Detalles Bibliográficos
Autores principales: Lin, Liling, Zhang, Ying, Pan, Hong, Wang, Jingmin, Qi, Yu, Ma, Yinan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7656751/
https://www.ncbi.nlm.nih.gov/pubmed/33176815
http://dx.doi.org/10.1186/s13023-020-01599-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7656751/
https://www.ncbi.nlm.nih.gov/pubmed/33176815
http://dx.doi.org/10.1186/s13023-020-01599-y

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