A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

by Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi
Published 2019-12-01

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

by 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, Rena A. Zinchenko
Published 2020-10-01