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Results 1 - 4 of 4 for Aarskog syndrome
  1. Aarskog-Scott syndrome 
    ... not show signs and symptoms of the condition. Aarskog syndrome AAS Facio-digito-genital dysplasia Faciodigitogenital syndrome Faciogenital dysplasia FGDY Genetic Testing Registry: Aarskog syndrome Aarskog-Scott syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
  2. FGD1 gene 
    ... formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). Dev Dyn. 2000 Aug;218(4):573-86. ... Sorrentino V. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light ...
    https://medlineplus.gov/genetics/gene/fgd1 - Genetics
  3. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 
    ... Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 ...
    https://medlineplus.gov/...ression-rieger-anomaly-and-teething-delay - Genetics
  4. PIK3R1 gene 
    ... Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 ...
    https://medlineplus.gov/genetics/gene/pik3r1 - Genetics