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

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

Abstract 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...

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Bibliographic Details
Main Authors: Liling Lin, Ying Zhang, Hong Pan, Jingmin Wang, Yu Qi, Yinan Ma
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Global developmental delay and intellectual disability (GDD/ID)
Monogenic disease
Prenatal diagnosis
Next-generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13023-020-01599-y

Internet

http://link.springer.com/article/10.1186/s13023-020-01599-y

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