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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as “NSD1-positive individuals”), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occu...
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| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
The American Society of Human Genetics
2005
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1224542/ https://ncbi.nlm.nih.gov/pubmed/15942875 |
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