A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity

Author:

Ben Rhouma Bochra,Belguith Neila,Mnif Mouna Feki,Kamoun Thouraya,Charfi Nadia,Kamoun Mahdi,Abdelhedi Fatma,Hachicha Mongia,Kamoun Hassen,Abid Mohamed,Fakhfakh Faiza

Publisher

Elsevier BV

Subject

Urology,Reproductive Medicine,Endocrinology,Endocrinology, Diabetes and Metabolism,Psychiatry and Mental health

Reference5 articles.

1. The clinical and molecular heterogeneity of 17β‐HSD3 enzyme deficiency;George;Horm Res Paediatr,2010

2. Role of 17b‐hydroxysteroid dehydrogenases in sex steroid formation in peripheral intracrine tissues;Labrie;Trends Endocrinol Metab,2000

3. A simple method for DNA extraction from leukocytes for use in PCR;Lewin;Biotechniques,1992

4. 17b‐Hydroxysteroid dehydrogenase 3 deficiency;Andersson;Trends Endocrinol Metab,1996

5. Mechanisms of androgen production in male pseudohermaphroditism due to 17 beta‐hydroxysteroid dehydrogenase deficiency;Rösler;J Clin Endocrinol Metab,1992

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