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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
BACKGROUND: The X-linked condition “Aarskog-Scott syndrome (AAS)” causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 is inv...
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| 出版年: | BMC Pediatr |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2017
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5248450/ https://ncbi.nlm.nih.gov/pubmed/28103835 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-017-0781-4 |
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