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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
- Published in:
- British Journal of Haematology, 2023, v. 201, n. 4, p. e46, doi. 10.1111/bjh.18760
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- Publication type:
- Article
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
- Published in:
- 2015
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- Publication type:
- Case Study
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
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- Publication type:
- Article