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

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. CASE PRESEN...

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Detalles Bibliográficos
Autores principales: Xu, Shanshan, Lian, Qun, Wu, Jinzhun, Li, Lingli, Song, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398275/
https://www.ncbi.nlm.nih.gov/pubmed/32746809
http://dx.doi.org/10.1186/s12881-020-01096-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398275/
https://www.ncbi.nlm.nih.gov/pubmed/32746809
http://dx.doi.org/10.1186/s12881-020-01096-w

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