trio clinical exome sequencing in a patient with multicentric carpotarsal osteolysis syndrome

December 20, 2021 12:10 pm Published by Leave your thoughts

Rare disease discovery – First Case Report in the Balkans

Testing the proband and her parents led to the identification of a de novo mutation c.188C>T (p.Pro63Leu) in the MAFB gene, which is known to cause multicentric carpotarsal osteolysis syndrome (MCTO).

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