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A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

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https://hal-pasteur.archives-ouvertes.fr/pasteur-03521843
Contributor : Ken McElreavey Connect in order to contact the contributor
Submitted on : Tuesday, January 11, 2022 - 6:40:54 PM
Last modification on : Thursday, April 7, 2022 - 10:10:29 AM

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Rita Bertalan, Osnat Admoni, Anu Bashamboo, Yardena Tenenbaum-Rakover, Ken Mcelreavey. A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. Clinical Endocrinology, 2017, 87 (4), pp.407-408. ⟨10.1111/cen.13396⟩. ⟨pasteur-03521843⟩

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