{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:15:10Z","timestamp":1787026510231,"version":"build-2736575974"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3389\/fgene.2022.932073","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T01:50:35Z","timestamp":1660614635000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study"],"prefix":"10.3389","volume":"13","author":[{"given":"Yijia","family":"Liang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honglin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiumei","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiyu","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,16]]},"reference":[{"key":"B1","first-page":"235","article-title":"A familial syndrome of short stature associated with facial dysplasia and genital anomalies","volume":"7","author":"Aarskog","year":"1971","journal-title":"Birth Defects Orig. 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