Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.
Jinli LiQin WangAijun YangJun-Yu ZhangPublished in: Ophthalmic genetics (2024)
is a novel pathogenic gene responsible for autosomal dominant microphthalmia, thus offering valuable insights for precise diagnosis and targeted therapeutic interventions in cases of microphthalmia.