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Harry Pachajoa

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Review Open access Aug 2026

Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization

The literature review confirmed shared chromatinopathy-related features, including developmental delay, intellectual disability, craniofacial dysmorphism, skeletal anomalies and behavioral disturbances, as well as under-recognized findings such as facial asymmetry, low anterior hairline, hypotonia and hearing impairmen...

Sebastián Bonilla-Navarrete, J. Nastasi-Catanese, Luis Eduardo Prieto et al. · 0 citations

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