SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant
Background: Hereditary spherocytosis is clinically and genetically heterogeneous disorder and its clinical characteristics are spherocytosis, anaemia, jaundice and splenomegaly. The aetiology is associated to the genes encoding proteins involved in the interaction between the erythrocyte membrane an...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2020-07-01
|
| Series: | Nefrología |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0211699520300047 |