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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site var...
Tallennettuna:
| Julkaisussa: | Eur J Hum Genet |
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| Päätekijät: | , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4402637/ https://ncbi.nlm.nih.gov/pubmed/25118028 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.162 |
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