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- W3108355654 abstract "Abstract Context Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents with different severities that correlate with the genotype. The salt-losing phenotype requires 2 alleles with “severe” mutations. Case Description We present a case of salt-losing 21-hydroxylase deficiency that was found to be homozygous for 2 “mild” pathogenic variants: V281L and S301Y. Both in silico and heterologous expression functional analysis demonstrated that co-occurrence of these 2 mutations in cis severely impairs the function of the 21-hydroxylase enzyme. Conclusions This case has important implications for genetic counseling. Regarding this combination of 2 “mild” variants as having mild phenotypic effects could lead to inappropriate counseling of heterozygote carriers." @default.
- W3108355654 created "2020-12-07" @default.
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- W3108355654 date "2020-11-27" @default.
- W3108355654 modified "2023-10-14" @default.
- W3108355654 title "Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two “Mild” Mutations" @default.
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- W3108355654 doi "https://doi.org/10.1210/clinem/dgaa875" @default.
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