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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Three cases of multicentric carpotarsal osteolysis syndrome: a case series

Fig. 3

Pedigrees and sequence chromatograms of the patients and their parents. Patients 1 and 3 carry a de novo heterozygous mutation of c.211C > G (p.Pro71Ala) and c.212C > T (p.Pro71Leu) in the MAFB gene, respectively. Patient 2 carries a heterozygous MAFB mutation, c.183C > A (p.Ser61Arg). Her mother does not carry the mutation and her father’s sample was unavailable

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