Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Ti...

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Bibliographic Details
Main Authors: Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Medicina
Subjects:
genodermatoses
genetic skin disorders
auditory-pigmentary disorders
neurocristopathies
piebaldism
multilocus syndrome
KIT
15q13.3 deletion
Online Access:https://www.mdpi.com/1010-660X/55/7/345

Internet

https://www.mdpi.com/1010-660X/55/7/345

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