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- [32] Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2018, 17 (01): : 127 - 132
- [34] Novel P450c17 Mutation H373D Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (08): : 3089 - 3092
- [35] 17α-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (07): : 4362 - 4365
- [36] A Novel Compound Heterozygous Mutation of the CYP17A1 Gene Is Associated with Rhabdomyolysis: Demonstration of Combining 17α-Hydroxylase/17,20-Lyase Deficiency HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 644 - 644
- [37] Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency HORMONE RESEARCH IN PAEDIATRICS, 2010, 73 (03): : 198 - 204