Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases

Biallelic TENM3 variants were recently reported to cause non-syndromic microphthalmia with coloboma-9 (MCOPCB9) and microphthalmia and/or coloboma with developmental delay (MCOPS15). To date, only eight syndromic and non-syndromic microphthalmia cases with recessive TENM3 variants have been reported...

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Detalles Bibliográficos
Autores principales: Lu, Fen, Xu, Xin, Zheng, Bixia, Wang, Chunli, Zhou, Wei, Tang, Jian, Zhao, Xiaoke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9998998/
https://www.ncbi.nlm.nih.gov/pubmed/36911040
http://dx.doi.org/10.3389/fped.2023.1111771

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9998998/
https://www.ncbi.nlm.nih.gov/pubmed/36911040
http://dx.doi.org/10.3389/fped.2023.1111771

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