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

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Bibliographic Details
Published in:Clinical endocrinology (Oxford) 2017-10, Vol.87 (4), p.407-408
Main Authors: Bertalan, Rita, Admoni, Osnat, Bashamboo, Anu, Tenenbaum‐Rakover, Yardena, McElreavey, Kenneth
Format: Article
Language:English
Subjects:
17-Hydroxysteroid Dehydrogenases
Child
Consanguinity
Gonadal Dysgenesis, 46,XY
Humans
Life Sciences
Male
Mutation, Missense
Point mutation
Reproductive Biology
Whole Exome Sequencing
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ISSN:0300-0664
1365-2265
DOI:10.1111/cen.13396