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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| 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 |