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bibliographicCitation Becker K, Csikós M, Horváth A, Kárpáti S. Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. Exp Dermatol. 2001 Aug;10(4):286–9. doi: 10.1034/j.1600-0625.2001.100409.x. PMID: 11493318.
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title Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome
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