… RAX mutations in a child with bilateral anophthalmia. Both mutations are located in exon 3.
c.… anophthalmia associated with two distinct and novel truncating mutations of the RAX gene. …

… RAX is a homeobox gene that plays a major role in human and vertebrate eye … A confirmed
the previously suggested recessive inheritance of RAX mutations in human anophthalmia [10,…

… It has been shown that Homeobox-containing genes, such as RAX, play a vital role in the …
The diagnosis of anophthalmia was confirmed by fetal magnetic resonance imaging (MRI) (…

… and chiasm, which can be confirmed through MRI brain and orbit … understanding the genetic
regulation underlying human eye … in human ocular abnormalities) resulted in disrupted Rax …

… confirm the de novo origin of the probands' mutations. All five … rates to specific genes
involved in eye developmental … human RAX homeobox gene in a patient with anophthalmia …

… Our study confirmed the utility of genome sequencing as a diagnostic tool for A/M-affected …
the seventh week in human embryos [1]. Many genes play a role and are either upregulated or …

… Direct Sanger sequencing was then used to confirm the … reported in human subjects, and
these include anophthalmia, … on the role of the RAX mutation in OC disease pathogenesis. …

… defect newly described in humans, we have also reported on … carriers of both mutations
(confirmed by Sanger sequencing)… In summary, the RAX homeobox gene is essential for …

… A RAX gene deletion has also been described in one patient with bilateral anophthalmia, …
over 18 months, 135 confirmed cases of microphthalmia, anophthalmia and ocular coloboma (…

… Anophthalmia and microphthalmia are part of the same … studies of Rax in different species
have shown this gene to be … Therefore, Vax2 is confirmed to not only play a crucial role in …