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The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome
BACKGROUND: Noonan syndrome (NS) is an autosomal dominant disorder that belongs to a group of developmental disorders called RASopathies with overlapping features and multiple causative genes. The aim of the study was to identify mutations underlying this disorder in patients from Southeast Asia and...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6465663/ https://ncbi.nlm.nih.gov/pubmed/30784236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.581 |
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