Condition: Waardenburg Anophthalmia Syndrome


rs1365818420 in SMOC1 gene and Waardenburg Anophthalmia Syndrome PMID 21750680 2011 Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

PMID 21194678 2011 SMOC1 is essential for ocular and limb development in humans and mice.

PMID 21194680 2011 Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

PMID 23646827 2013 Mutations in ALDH1A3 cause microphthalmia.

PMID 28085523 2017 A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.