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 NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual dis...

Descripción completa

Detalles Bibliográficos
Autores principales: Casto, Celeste, Dipasquale, Valeria, Ceravolo, Ida, Gambadauro, Antonella, Aliberto, Emanuela, Galletta, Karol, Granata, Francesca, Ceravolo, Giorgia, Falzia, Emanuela, Riva, Antonella, Piccolo, Gianluca, Cutrupi, Maria Concetta, Striano, Pasquale, Accogli, Andrea, Zara, Federico, Di Rosa, Gabriella, Gitto, Eloisa, Calì, Elisa, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Chimenz, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465299/
https://www.ncbi.nlm.nih.gov/pubmed/34573171
http://dx.doi.org/10.3390/brainsci11091150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465299/
https://www.ncbi.nlm.nih.gov/pubmed/34573171
http://dx.doi.org/10.3390/brainsci11091150

Ejemplares similares