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Aarskog syndrome

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

Papers overview

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Review
2015
Review
2015
The p38 mitogen-activated protein kinase (MAPK) signaling pathway can be activated in response to a wide range of extracellular… 
Highly Cited
2009
Highly Cited
2009
Mutations in the FGD1 gene are responsible for the X-linked disorder known as faciogenital dysplasia (FGDY). FGD1 encodes a… 
Highly Cited
2009
Highly Cited
2009
Invadopodia are proteolytically active membrane protrusions that extend from the ventral surface of invasive tumoral cells grown… 
Highly Cited
2008
Highly Cited
2008
Members of the Fgd (faciogenital dysplasia) gene family encode a group of critical guanine nucleotide exchange factors (GEFs… 
Highly Cited
2003
Highly Cited
2003
FGD1 mutations result in Faciogenital Dysplasia (FGDY), an X-linked human disease that affects skeletal formation and embryonic… 
Highly Cited
1998
Highly Cited
1998
ABSTRACT Activated forms of different Rho family members (CDC42, Rac1, RhoA, RhoB, and RhoG) have been shown to transform NIH 3T3… 
Highly Cited
1992
Highly Cited
1992
  • J. Fryns
  • American journal of medical genetics
  • 1992
  • Corpus ID: 27141234
We describe the Leuven experience with 52 males with Aarskog syndrome particularly with respect to clinical variability, changing… 
Highly Cited
1983
Highly Cited
1983
  • G. Longo
  • Annals of Pure and Applied Logic
  • 1983
  • Corpus ID: 2899047
Review
1983
Review
1983
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat…