載入...
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 variants have been reported as causative of syndromic or non-...
Na minha lista:
| 發表在: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
MDPI
2021
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8230408/ https://ncbi.nlm.nih.gov/pubmed/34200686 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060900 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|