Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss

Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss

Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not bee...

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Bibliographic Details
Main Authors: Haemi Choi, Jeong-A. Kim, Kyung-Ok Cho, Hyun Jung Kim, Min-Hyeon Park
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Genetics
Subjects:
cognitive impairment
neurodevelopmental disorder
12p deletion
CNV
chromosomal microarray analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1355823/full

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