التفاصيل البيبلوغرافية
| العنوان: |
Netherton Syndrome -- a therapeutic challenge in childhood |
| المؤلفون: |
Kostova, Polina, Petrova, Guergana, Shahid, Martin, Papochieva, Vera, Miteva, Dimitrinka, Yordanova, Ivelina, Drenovska, Kossara, Bradinova, Irena, Janniger, Camila K., Schwartz, Robert A., Vassileva, Snejina |
| بيانات النشر: |
Authorea, Inc. |
| سنة النشر: |
2024 |
| المجموعة: |
The Winnower (via CrossRef) |
| الوصف: |
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune |
| نوع الوثيقة: |
other/unknown material |
| اللغة: |
unknown |
| DOI: |
10.22541/au.171059231.16816949/v1 |
| الإتاحة: |
https://doi.org/10.22541/au.171059231.16816949/v1Test |
| رقم الانضمام: |
edsbas.394009D7 |
| قاعدة البيانات: |
BASE |
