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A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report
Aarskog-Scott syndrome (AAS) is most commonly inherited as an X-linked recessive genetic disease caused by FGD1 mutations. AAS patients are most frequently male, and the clinical manifestations of facial abnormalities, skeletal deformities, and abnormal genitalia comprise a characteristic triad of d...
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| Gepubliceerd in: | Transl Pediatr |
|---|---|
| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
AME Publishing Company
2021
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8192999/ https://ncbi.nlm.nih.gov/pubmed/34189097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-21-26 |
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