Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the <i>NHS</i> gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also prese...

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Bibliographic Details
Main Authors: Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Roberto Chimenz
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Brain Sciences
Subjects:
genotype
motor impairment
Nance-Horan syndrome
next-generation sequencing
congenital cataracts
dental anomalies
Online Access:https://www.mdpi.com/2076-3425/11/9/1150

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https://www.mdpi.com/2076-3425/11/9/1150

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