التفاصيل البيبلوغرافية
العنوان: |
[Inherited platelet disorders]. |
المؤلفون: |
Brøns N; nanna.broens@regionh.dk., Rossing M, Leinøe EB |
المصدر: |
Ugeskrift for laeger [Ugeskr Laeger] 2021 Oct 18; Vol. 183 (42). |
نوع المنشور: |
Journal Article; Review |
اللغة: |
Danish |
بيانات الدورية: |
Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN: 1603-6824 (Electronic) Linking ISSN: 00415782 NLM ISO Abbreviation: Ugeskr Laeger Subsets: MEDLINE |
أسماء مطبوعة: |
Original Publication: Copenhagen : Den Alm Danske Laegerforening |
مواضيع طبية MeSH: |
Blood Platelet Disorders*/diagnosis , Blood Platelet Disorders*/genetics , Blood Platelets*, Humans ; Whole Genome Sequencing |
مستخلص: |
Inherited platelet disorders (IPD) cover a heterogenous group of disorders with large differences in severity, disease mechanisms and prevalence. Pathogenic variants in more than 60 different genes, associated with megakaryocyte or platelet number and/or function, are causal of IPD. Due to disease heterogeneity IPDs are often difficult to diagnose, problematic to manage and underestimated. In the past decade, genetic diagnostics using whole-genome sequencing has revolutionised the field by identifying numerous novel genes involved in IPD aetiology as described in this review. |
تواريخ الأحداث: |
Date Created: 20211028 Date Completed: 20211208 Latest Revision: 20230809 |
رمز التحديث: |
20240628 |
PMID: |
34709163 |
قاعدة البيانات: |
MEDLINE |