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

• Main Authors: Andrey V. Marakhonov (Author), Irina A. Mishina (Author), Vitaly V. Kadyshev (Author), Svetlana A. Repina (Author), Maria F. Shurygina (Author), Olga A. Shchagina (Author), Natalya N. Vasserman (Author), Tatyana A. Vasilyeva (Author), Sergey I. Kutsev (Author), Rena A. Zinchenko (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...