Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

PURPOSE: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome. OBSERVATIONS: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed...

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Detalles Bibliográficos
Autores principales: Mansoor, Mahsaw, Coussa, Razek Georges, Strampe, Margaret R., Larson, Scott A., Russell, Jonathan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871737/
https://www.ncbi.nlm.nih.gov/pubmed/36703904
http://dx.doi.org/10.1016/j.ajoc.2023.101798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871737/
https://www.ncbi.nlm.nih.gov/pubmed/36703904
http://dx.doi.org/10.1016/j.ajoc.2023.101798

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