Nature

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of ...

We report two new patients with bilateral micro/anophthalmia as well as other dysmorphic features in association with chromosomal deletions involving 3q26-28. Using fluorescence in situ hybridisation ...
Nature

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Human eye development is a coordinated process that requires the ordered activation of numerous genes in a spatially and temporally controlled manner during embryonic life [1, 2]. Environmental and/or ...