A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
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- 作者：Abdul Rezzak Hamzeh ; Fatima Saif ; Pratibha Nair ; Asma Jassim Binjab…
- 关键词：Faciogenital dysplasia ; X ; linked Aarskog syndrome ; Frameshift deletion ; Emirati ; Consanguineous
- 刊名：BMC Pediatrics
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：17
- 期：1
- 全文大小：891KB
- 刊物主题：Pediatrics; Internal Medicine;
- 出版者：BioMed Central
- ISSN：1471-2431
- 卷排序：17
文摘
BackgroundThe 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 involved in regulating signaling pathways that control cytoskeleton organization and embryogenesis.