What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis

Pathogenic variants in genes are involved in histone acetylation and deacetylation resulting in congenital anomalies, with most patients displaying a neurodevelopmental disorder and dysmorphism. Arboleda-Tham syndrome caused by pathogenic variants in KAT6A (Lysine Acetyltransferase 6A; OMIM 601408)...

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Detalles Bibliográficos
Autores principales: Bukvic, Nenad, Chetta, Massimiliano, Bagnulo, Rosanna, Leotta, Valentina, Pantaleo, Antonino, Palumbo, Orazio, Palumbo, Pietro, Oro, Maria, Rivieccio, Maria, Laforgia, Nicola, De Rinaldis, Marta, Rosati, Alessandra, Kerkhof, Jennifer, Sadikovic, Bekim, Resta, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859366/
https://www.ncbi.nlm.nih.gov/pubmed/36672906
http://dx.doi.org/10.3390/genes14010165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859366/
https://www.ncbi.nlm.nih.gov/pubmed/36672906
http://dx.doi.org/10.3390/genes14010165

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