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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Principais autores:	Fen Lu, Xin Xu, Bixia Zheng, Chunli Wang, Wei Zhou, Jian Tang, Xiaoke Zhao
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-02-01
coleção:	Frontiers in Pediatrics
Assuntos:	syndromic microphthalmia TENM3 whole exome sequencing genotype-phenotype children
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fped.2023.1111771/full
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