Identification of a novel microdeletion causative of Nance‐Horan syndrome

BACKGROUND: Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver blad...

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Detalles Bibliográficos
Autores principales: Lopez Martinolich, Mariana, Northrup, Hope, Mancias, Pedro, Hillman, Paul, Rao, Kavya, Mowrey, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922954/
https://www.ncbi.nlm.nih.gov/pubmed/35122698
http://dx.doi.org/10.1002/mgg3.1879

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922954/
https://www.ncbi.nlm.nih.gov/pubmed/35122698
http://dx.doi.org/10.1002/mgg3.1879

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