Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregating variants in X-linked genes. However, the genetic cause of ID remains elusive in approximately 50%...

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Bibliographic Details
Main Authors: Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, Detelina Grozeva
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Genetics
Subjects:
intellectual disability
Mendelian disease
next-generation sequencing
autosomal dominant
X-linked
mosaicism
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00578/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00578/full

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