KDM2B or Not to Be 👀
Are structural eye anomalies part of the KDM2B clinical spectrum?
We report 2 new cases with variants in the CxxC domain and congenital eye anomalies, supporting inclusion of KDM2B in diagnostic panels for
#anophthalmia
#microphthalmia
#coloboma
www.nature.com/articles/s41...
Want to read/learn more about ocular #coloboma, #microphthalmia and #anophthalmia, then please visit Gene Vision, an amazing knowledge-sharing resource for patients & professionals: An A-Z of #GeneticEyeDisease #GeneVision gene.vision?s=Ocular+col...
(manuscript, MS Word) Comparing auditory function and reorganisation in blindness due to #anophthalmia with other causes www.oapublishinglondon.com/images/manuscript/140368...
