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Insights Into an Ultra Rare Disease

Augusto César Cardoso-Dos-Santos et al.
February 01, 2020

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.