Aarskog syndrome

Known as: aarskogs syndrome, aarskog's syndrome, Scott Aarskog Syndrome 
 
National Institutes of Health

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2001
2001
FGD1 mutations result in faciogenital dysplasia, an X-linked human disease that affects skeletogenesis. FGD1 encodes a guanine… (More)
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2000
2000
FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42; FGD1 mutations result… (More)
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2000
2000
The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature… (More)
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1999
1999
In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of… (More)
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1998
1998
AIM To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome. METHODS 21… (More)
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Highly Cited
1994
Highly Cited
1994
Faciogenital dysplasia (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by… (More)
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1992
1992
At present, around 100 males with Aarskog syndrome from different ethnic groups have been reported.`'3 The main clinical features… (More)
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1990
1990
A rare Aarskog syndrome is reported in a 12-year-old boy. The patient had a triad of characteristic symptoms consisting of short… (More)
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1980
1980
In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial… (More)
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1976
1976
The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is… (More)
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