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p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
Hye Won Park, Byung Ok Kwak, Gu-Hwan Kim, Han-Wook Yoo, Sochung Chung
Ann Pediatr Endocrinol Metab. 2013;18(1):40-43.   Published online March 31, 2013
DOI: https://doi.org/10.6065/apem.2013.18.1.40

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Congenital Lipoid Adrenal Hyperplasia
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p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
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Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene
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