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Case Reports
. 2021 Jan;30(1):22-26.
doi: 10.1097/MCD.0000000000000349.

TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings

Florencia Bevilacqua  1 , Guillermo Alberto  1 , Santiago Pablo Duarte  1 , Marina Serra  1 , Julieta Basterra  1 , Lucía Espeche  1 , Roxana Inés Cerretini  1 , Andrea Paula Solari  1
Affiliations
Case Reports

TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings

Florencia Bevilacqua et al. Clin Dysmorphol. 2021 Jan.
No abstract available

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References

    1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 20135th ed, Arlington, VA. American Psychiatric Publishing Incorporated
    1. Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psych. 2016; 22:615–624
    1. Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, et al. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Hum Mol Genet. 2016; 25:892–902
    1. Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, et al.; C4RCD Research Group. Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain-Specific neurodevelopmental disorders. Am J Hum Genet. 2020; 106:338–355
    1. Hanna Al Shaikh R, Caulfield T, Strongosky AJ, Matthew M, Jansen-West KR, Prudencio M, et al. TRIO gene segregation in a family with cerebellar ataxia. Neurol Neurochir Pol. 2018; 52:743–749

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