Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients were two brothers. Then, the relationship between genotype and phenotype in Aarskog-Scott syndrome was investigated preliminarily. A new FGD1 gene variant was revealed in this study, providing insights into the link between phenotype and genotype variations in Aarskog-Scott syndrome as well as a foundation for its diagnosis and treatment.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424661 | PMC |
| http://dx.doi.org/10.3389/fgene.2022.932073 | DOI Listing |
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