Condition: MICROPHTHALMIA, SYNDROMIC 12


rs397518483 in RARB gene and MICROPHTHALMIA, SYNDROMIC 12 PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.