Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

doi:10.1002/ajmg.a.70155

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Article

Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

American journal of medical genetics. Part A - 1 Sept 2026

Zechi-Ceide Roseli Maria, Segarra Vinicius Contrucci Dantas, Vendramini-Pittoli Siulan, Serigatto Henrique Regonaschi, Virmond Luiza, da Cunha Palhares Heloisa Marcelina, Jehee Fernanda, Krepischi Ana Cristina Victorino, Rosenberg Carla, Grangeiro Carlos Henrique Paiva, Kokitsu-Nakata Nancy Mizue

Abstract excerpt

The transformation/transcription domain-associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell-cycle regulation. Heterozygous missense variants in the TRRAP gene have been associated...

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PMID: 41952423
DOI: 10.1002/ajmg.a.70155

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TRRAP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.PMID 41952423Read ↗

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