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Aarskog-Scott syndrome

Overview page. Subjects: Chemistry — Medicine and Health.

An X-linked developmental disorder (faciogenital dysplasia, FGDY) in which stature is disproportionately short and there are facial, skeletal, and urogenital abnormalities. The syndrome is...

See overview in Oxford Index

Aarskog-Scott syndrome

Overview page. Subjects: Chemistry — Medicine and Health.

An X-linked developmental disorder (faciogenital dysplasia, FGDY) in which stature is disproportionately short and there are facial, skeletal, and urogenital abnormalities. The syndrome is...

See overview in Oxford Index

Aarskog–Scott syndrome

John Lackie.

in A Dictionary of Biomedicine

January 2010; p ublished online January 2010 .

Reference Entry. Subjects: Clinical Medicine. 40 words.

An X-linked developmental disorder (faciogenital dysplasia, FGDY) in which stature is disproportionately short and there are facial, skeletal, and urogenital abnormalities. The syndrome is...

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Aarskog‐Scott syndrome

Edited by Richard Cammack, Teresa Atwood, Peter Campbell, Howard Parish, Anthony Smith, Frank Vella and John Stirling.

in Oxford Dictionary of Biochemistry and Molecular Biology

January 2006; p ublished online January 2008 .

Reference Entry. Subjects: Biochemistry. 62 words.

an extremely rare genetically heterogeneous developmental disorder in which individuals have widely spaced eyes, anteverted nostrils, a broad upper lip

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FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400

Jerome L. Gorski.

in Epstein's Inborn Errors of Development

June 2016; p ublished online July 2016 .

Chapter. Subjects: Clinical Genetics. 6234 words.

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the...

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phafins

Overview page. Subjects: Medicine and Health.

A family of proteins that have PH (pleckstrin homology) and FYVE domains. See LAPF. The FYVE, rhoGEF, and PH domain-containing protein 1 (FGD1) is associated with Aarskog–Scott syndrome...

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FYVE, RhoGEF, and PH domain-containing proteins

Overview page. Subjects: Medicine and Health.

A family of proteins containing zinc fingers, GDP-exchange proteins involved in regulating actin-based motility. For example, FYVE, RhoGEF, and PH domain-containing protein-1 (FGD1,...

See overview in Oxford Index