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Case Reports
. 2024 Sep;91(9):987.
doi: 10.1007/s12098-024-05115-z. Epub 2024 Apr 3.

A Rare Mutation in TRRAP Gene and the Expanded New Phenotype

Rohan Acharya  1 , Kapil Bhalla  2 , Geeta Gathwala  2
Affiliations
Case Reports

A Rare Mutation in TRRAP Gene and the Expanded New Phenotype

Rohan Acharya et al. Indian J Pediatr. 2024 Sep.
No abstract available

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References

    1. Cogné B, Ehresmann S, Beauregard-Lacroix E, et al. Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability. Am J Hum Genet. 2019;104:530–41. - PubMed - PMC
    1. Mavros CF, Brownstein CA, Thyagrajan R, et al. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. BMC Med Genet. 2018;19:197. - PubMed - PMC
    1. Suzuki T, Hirai Y, Uehara T, Ohga R, Kosaki K, Kawahara A. Involvement of the zebrafish TRRAP gene in craniofacial development. Sci Rep. 2021;11:24166. - PubMed - PMC
    1. Clay S, Zambrano R. TRRAP associated neurodevelopmental disorder: a case report. Available at: https://www.medschool.lsuhsc.edu/genetics/ClaySloanePoster.pdf . Accessed on 10 Mar 2024.

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