Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature

BACKGROUND: Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans-Golgi network. Point mutations in the OCRL gene...

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Detalles Bibliográficos
Autores principales: Tatsi, P., Papanikolaou, G. E., Chartomatsidou, T., Papoulidis, I., Athanasiadis, A., Najdecki, R., Timotheou, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825338/
https://www.ncbi.nlm.nih.gov/pubmed/31676009
http://dx.doi.org/10.1186/s13256-019-2263-9

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