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The SPRED1 Variants Repository for Legius Syndrome
Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1 domain containing 1 (SPRED1) gene. The phenotype of LS is multiple café au lait macules (CALM) with other commonly reported manifestations, including intertriginous freck...
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Genetics Society of America
2011
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3276167/ https://ncbi.nlm.nih.gov/pubmed/22384355 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.111.000687 |
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