The elephant in the shROOM: Evidence for SHROOM4 in disease remains limited and conflicting
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Co-Author - Jullianne Diaz, MS, CGC; Co-Author - Megan Martin, MS, CGC; Presenting Author - Najla Al-Sweel, PhD, DABMGG;
Meta Tag
Clinical History
Delineation of Diseases
Identification of Disease Genes
Intellectual disability
X-Inactivation/X-Linked Disease
Co-Author Jullianne Diaz, MS, CGC
Co-Author Megan Martin, MS, CGC
Presenting Author Najla Al-Sweel, PhD, DABMGG
Keywords
SHROOM4 gene
neurodevelopmental disorders
SHROOM4 variants
epilepsy
infantile spasms
pulmonary valve stenosis
gain-of-function effect
loss-of-function effect
uncertain evidence
functional analyses

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