Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient

BACKGROUND: Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied among the...

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Detalles Bibliográficos
Autores principales: Zhou, Youfeng, Xu, Ke, Gu, Weiyue, Huang, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184666/
https://www.ncbi.nlm.nih.gov/pubmed/35397152
http://dx.doi.org/10.1002/mgg3.1948

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184666/
https://www.ncbi.nlm.nih.gov/pubmed/35397152
http://dx.doi.org/10.1002/mgg3.1948

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