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Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome Cover

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
By: R Śmigiel,  B Królak-Olejnik,  D Śniegórska,  A Rozensztrauch,  A Szafrańska,  MM Sasiadek and  K Wertheim-Tysarowska  
Open Access
|Dec 2016

Figures & Tables

Generalized erythroderma covered by fine, translucent scales all over the body and scalp.
Generalized erythroderma covered by fine, translucent scales all over the body and scalp.
Facial dysmorphic features resulting from ichthyosis.
Facial dysmorphic features resulting from ichthyosis.
Sparse hair with abnormal hair shafts and alopecia.
Sparse hair with abnormal hair shafts and alopecia.
DOI: https://doi.org/10.1515/bjmg-2016-0040 | Journal eISSN: 2199-5761
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Language: English
Page range: 81 - 84
Published on: Dec 31, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Mutation,
Netherton Syndrome (NS),
SPINK5 gene
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 R Śmigiel, B Królak-Olejnik, D Śniegórska, A Rozensztrauch, A Szafrańska, MM Sasiadek, K Wertheim-Tysarowska, 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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