Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

Abstract Background Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic features. Mutations in TBC1D32 were a...

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Main Authors: Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M. Millán, Gema García-García
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Human Genomics
Subjects:
TBC1D32
Retinitis pigmentosa
Hearing loss
Minigene assay
Expanding clinical spectrum
Online Access:https://doi.org/10.1186/s40246-025-00759-0
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https://doi.org/10.1186/s40246-025-00759-0

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