Novel splice-site and missense mutations in the<i>ALDH1A3</i>gene underlying autosomal recessive anophthalmia/microphthalmia

Abstract

In conclusion, novel ALDH1A3 mutations identified in the present study confirm the pivotal role of ALDH1A3 in human eye development. Autistic features, previously reported as an associated finding, were considered to be the result of social deprivation and inadequate parenting during early infancy in the presented families.