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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Bibliographic Details
Main Authors: Fen Lu, Xin Xu, Bixia Zheng, Chunli Wang, Wei Zhou, Jian Tang, Xiaoke Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Pediatrics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1111771/full