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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8085, doi. 10.1038/ncomms9085
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- Publication type:
- Article
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1634, doi. 10.1038/ejhg.2015.41
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- Publication type:
- Article
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
- Published in:
- 2019
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- Publication type:
- Correction Notice
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
- Published in:
- 2016
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- Publication type:
- journal article
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1722, doi. 10.1002/ajmg.a.63194
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- Publication type:
- Article