Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report

Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Howev...

Source: BMC Medical Genetics - August 3, 2020 Category: Genetics & Stem Cells Authors: Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li and Jia Song Tags: Case report Source Type: research