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

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: ,   and    
Open Access
|Aug 2020
Figures & tables

Figures & Tables

Figure 1

(a), (b), (c): There is showed erythema and desquamation on the trunk and face, regression in frontal hair-line, loss of eyebrows and eyelash.

Figure 2

(a), (b), (c): In the hair shaft examination, Pili annulati abnormality. (100X or 200X magnification under light microscobic.)

DOI: https://doi.org/10.2478/bjmg-2020-0012 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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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
Keywords:
Hair shaft abnormality,
Netherton syndrome (NS),
SPINK5 gene mutation
Related subjects:
Medicine,
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.

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