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

• Main Authors: Fen Lu (Author), Xin Xu (Author), Bixia Zheng (Author), Chunli Wang (Author), Wei Zhou (Author), Jian Tang (Author), Xiaoke Zhao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...