Literature DB >> 28617986

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

Rita Bertalan1, Osnat Admoni2, Anu Bashamboo1, Yardena Tenenbaum-Rakover2,3, Kenneth McElreavey1.   

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Year:  2017        PMID： 28617986     DOI： 10.1111/cen.13396

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  2 in total

1.  The evolving role of whole-exome sequencing in the management of disorders of sex development.

Authors:  Yardena Tenenbaum-Rakover; Osnat Admoni; Ghadir Elias-Assad; Shira London; Marie Noufi-Barhoum; Hanna Ludar; Tal Almagor; Yoav Zehavi; Charles Sultan; Rita Bertalan; Anu Bashamboo; Kenneth McElreavey
Journal:  Endocr Connect       Date:  2021-06-16       Impact factor: 3.335

Review 2.  Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.

Authors:  Catarina I Gonçalves; Josianne Carriço; Margarida Bastos; Manuel C Lemos
Journal:  Int J Mol Sci       Date:  2022-09-02       Impact factor: 6.208
  2 in total

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