PMC5635450_01
PMC5635450_02
PMC5635450_03
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A) Family pedigree marked with progressive phenotypes. (
B) Secondary structure of HSD11B2 marked with major domains and the p.R337C amino acid position. (
C) Capillary sequencing chromatogram representation of p.R337C variation in the family; arrow and asterisks marks depict the variation loci and affected individuals respectively.
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The index patient is the eldest (30 years old) and the brother mentioned (28 years old) is the second of five siblings, the others being females aged 22, 18 and 14 years old ( Figure-1A).