A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report Cover

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A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report

Balkan Journal of Medical Genetics

Volume 23 (2020): Issue 1 (June 2020)

By: E Erden, AC Ceylan and S Emre

Open Access

|Aug 2020

Authors

E Erden

doktor_ayyildiz@hotmail.com

Department of Dermatology and Venereology, Yıldırım Beyazit University, Ankara, Turkey

AC Ceylan

Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey

S Emre

Department of Dermatology and Venereology, Yıldırım Beyazit University, Ankara, Turkey

DOI: https://doi.org/10.2478/bjmg-2020-0012 | Journal eISSN: 2199-5761

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Language: English

Page range: 91 - 94

Published on: Aug 26, 2020

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Hair shaft abnormality,

Netherton syndrome (NS),

Related subjects:

Basic medical science,

Basic medical science, other

© 2020 E Erden, AC Ceylan, S Emre, 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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