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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

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The 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. | A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

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