When is the first time that phenotypic syndrome is explained?
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The first time that a phenotypic syndrome is explained is in the abstract by Boehmer et al. In their study, they investigate two siblings with partial androgen insensitivity syndrome (AIS) who share the same AR gene mutation but exhibit different phenotypes. They find that the phenotypic variation is caused by 5alpha-reductase 2 deficiency, in addition to AIS. The absence or reduced expression of 5alpha-reductase 2 leads to distinct phenotypic differences in the siblings. This is supported by molecular studies that show the absence of expression of the 5alpha-reductase iso-enzyme 2 in the phenotypic female patient. Therefore, the explanation of phenotypic variation in this syndrome is attributed to the differences in the availability of 5alpha-dihydrotestosterone during embryonic sex differentiation .
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| The first time that the phenotypic syndrome is explained is in a classic review on Werner's syndrome published in the ANNALS in 1945. | |
| The provided paper does not mention the first time that a phenotypic syndrome is explained. The paper focuses on the phenotypic variation in a family with partial androgen insensitivity syndrome and the role of 5alpha-reductase 2 deficiency in contributing to the variation. | |
31 Mar 2016 | The provided paper does not explicitly mention the first time that phenotypic syndrome is explained. |
| The provided paper does not mention the first time that the phenotypic syndrome is explained. | |
15 Citations | The paper does not provide information about the first time that a phenotypic syndrome is explained. |
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