Researchers in the Netherlands discover a new mutation in the FGD1 gene after sequencing the DNA of patients with AAS. read more here
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Aarskog-Scott Syndrome (AAS), also known as facio-digito-genital dysplasia is a genetic disorder that is caused by a mutation of the FGD1 gene. This condition affects development of many parts of the body and has a more profound effect on males than females. The disease is characterized by disproportionately short stature and by facial, skeletal, and urogenital anomalies (1).