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A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
BACKGROUND: Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs. Both macrocystic and microcystic LMs arise due to lymphatic...
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| Published in: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2021
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8106842/ https://ncbi.nlm.nih.gov/pubmed/33964933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01782-9 |
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