Treatment‐resistant schizophrenia with 22q11.2 deletion and additional genetic defects
Abstract We report a case of a 61‐year‐old female with 22q11.2 deletion syndrome (22q11.2DS) and a novel heterozygous nonsense variant in MAP1A, identified through whole‐genome sequencing (WGS). The patient presented with intellectual developmental disorder, treatment‐resistant schizophrenia (SCZ),...
Saved in:
Main Authors: | Sawako Furukawa (Author), Shusei Arafuka (Author), Hidekazu Kato (Author), Tomoo Ogi (Author), Norio Ozaki (Author), Masashi Ikeda (Author), Itaru Kushima (Author) |
---|---|
Format: | Book |
Published: |
Wiley,
2024-12-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions
by: Sawako Furukawa, et al.
Published: (2023) -
Neuropsychological and Language Deficits in 22q11.2 Deletion Syndrome
by: J Gordon Millichap, et al.
Published: (2014) -
22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment
by: Leyla S. Namazova-Baranova, et al.
Published: (2016) -
Deletion Syndrome 22q11.2: A Systematic Review
by: Jonathan Cortés-Martín, et al.
Published: (2022) -
Genotype-phenotype correlation in 22q11.2 deletion syndrome
by: Michaelovsky Elena, et al.
Published: (2012)