MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

Abstract excerpt

We report on two patients with four-limb postaxial polydactyly and a recurrent de novo missense variant (c.179G>A) in the MAX gene. This variant has been previously reported in four other cases of polydactyly, progressive macrocephaly, and ophthalmologic abnormalities. Our two cases represent the fifth and sixth known occurrences of this apparently rare genetic disorder. In addition to the previously reported...

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• Fingers
• Genetic Association Studies
• Heart Defects, Congenital
• Infant
• Megalencephaly