A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

Homozygous and compound heterozygous pathogenic variants in GNB5 have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnor...

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Bibliographic Details
Main Authors: Natascia Malerba, Shelley Towner, Katherine Keating, Gabriella Maria Squeo, William Wilson, Giuseppe Merla
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Genetics
Subjects:
GNB5
IDDCA
LADCI
cognitive impairment
cardiac arrhythmia
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00626/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2018.00626/full

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