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

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 diagno...

Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev and Rena A. Zinchenko Tags: Case Report Source Type: research