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Aarskog syndrome

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

Related topics

Related topics

27 relations
Attention Deficit DisorderBlepharoptosisBrachydactylyCleft Lip

Broader (6)

Congenital Hand DeformitiesCongenital Heart DefectsDwarfismFace

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome
Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X‐linked disorder of recessive… 
Highly Cited
2009
Highly Cited
2009
Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
Mutations in the FGD1 gene are responsible for the X-linked disorder known as faciogenital dysplasia (FGDY). FGD1 encodes a… 
1999
1999
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues.
FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42. FGD1 gene mutations… 
1999
1999
Prenatal sonographic diagnosis of Aarskog syndrome.
In 1970, Aarskog described a rare X‐linked developmental disorder characterized by short stature in association with a variety of… 
1994
1994
Umbilical findings in Aarskog syndrome
We report on five patients with Aarskog syndrome who show previously undescribed umbilical features. Two of the five patients had… 
1992
1992
Atypical case of Aarskog syndrome.
At present, around 100 males with Aarskog syndrome from different ethnic groups have been reported.`'3 The main clinical features… 
Review
1983
Review
1983
Autosomal dominant inheritance of the Aarskog syndrome.
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat… 
1983
1983
The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance
A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large… 
1974
1974
The Aarskog syndrome in three brothers
A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies… 
1972
1972
The Aarskog syndrome.
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