Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

BACKGROUND: Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some cases of ophthalmic pathology can be time- and cost-consumi...

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Detalles Bibliográficos
Autores principales: Marakhonov, Andrey V., Mishina, Irina A., Kadyshev, Vitaly V., Repina, Svetlana A., Shurygina, Maria F., Shchagina, Olga A., Vasserman, Natalya N., Vasilyeva, Tatyana A., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579785/
https://www.ncbi.nlm.nih.gov/pubmed/33092543
http://dx.doi.org/10.1186/s12881-020-01093-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579785/
https://www.ncbi.nlm.nih.gov/pubmed/33092543
http://dx.doi.org/10.1186/s12881-020-01093-z

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