Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
Yijia Liang1,2, Honglin Wu1, Xiumei He1
1Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Abstract:
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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