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Article

Phenotypic Manifestations of a New Variant in HDAC4 Gene.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2025

Ianniello Monica, De Angelis Valentina, Ottaiano Alessandro, Ruggiero Raffaella, Sirica Roberto, Petrillo Nadia, Fico Antonio, Cerbone Tania, Rosania Cecilia, Mormile Raffaella, Picone Carmine, Santorsola Mariachiara, Savarese Giovanni

Abstract excerpt

Psychomotor development delays affect 1%-3% of children and encompass a wide range of motor, cognitive, and social impairments. The histone deacetylase 4 (HDAC4) gene, critical for neurodevelopmental pathways, has been associated with developmental delays, autism spectrum disorders, and cognitive impairments. Here, we report a case of a female patient with global psychomotor developmental delay, hypotonia, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40167013
DOI: 10.1002/ajmg.b.33029

Genes

HDAC4

Variants

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