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Aarskog syndrome

Aarskog-Scott syndromeFaciodigitogential syndromeFaciogential dysplasia
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Aarskog syndrome" returned 0 free, full-text review articles. First 0 results:
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.
Last Updated: Oct 10, 2019

Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination.

Congenital heart defects in Aarskog syndrome.
Last Updated: Nov 15, 2006

We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non-Japanese cases (2 with congenital ...

Aarskog syndrome: report of a family with review and discussion of nosology.
Last Updated: Nov 17, 2004

Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Aarskog syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Aarskog syndrome" returned 15 free, full-text research articles. First few results:
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Last Updated: Nov 13, 2018

The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 ...

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
Last Updated: Apr 02, 2019

Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial ...

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15 Free Research Articles 70 Research Articles