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Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis Cover

Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
By: M Kocova,  D Plaseska-Karanfilska,  P Noveski and  M Kuzmanovska  
Open Access
|Dec 2019

Authors

M Kocova

mirjanakocova@yahoo.com

University Pediatric Clinic, Skopje, Republic of North Macedonia

D Plaseska-Karanfilska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia

P Noveski

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia

M Kuzmanovska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia
DOI: https://doi.org/10.2478/bjmg-2019-0022 | Journal eISSN: 2199-5761
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Language: English
Page range: 69 - 76
Published on: Dec 21, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Disorder of sexual differentiation (DSD),
5-α-reductase-2 (5-ARD) deficiency,
gene,
Gender assignment,
Gene deletion
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 M Kocova, D Plaseska-Karanfilska, P Noveski, M Kuzmanovska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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