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

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

Abstract Background 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. However, to have two Mendelian diseases in one patient is even rarer. Cas...

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Bibliographic Details
Main Authors: Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li, Jia Song
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Medical Genetics
Subjects:
CSNK2A1
TRPS1
Tricho-rhino-phalangeal syndrome type I
Okur-Chung neurodevelopmental syndrome
Dual molecular diagnosis
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01096-w

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