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Livia Garavelli

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Case report Open access Jul 2026

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations

The findings suggest that PPP1R12A-related disorders may exhibit a broader phenotypic variability than previously recognized and it is proposed that HL and inner ear malformations may represent novel features associated with this clinical spectrum.

G. Pianigiani, Lara Emily Rosso, Anna Morgan et al. · Genes · 0 citations