Aarskog-Scott syndrome: phenotypic and genetic heterogeneity

Aarskog-Scott syndrome: phenotypic and genetic heterogeneity

Aarskog-Scott syndrome (AAS) is a rare developmental disorder which primarily affects males and has a relative prevalence of 1 in 25,000 in the general population. AAS patients usually present with developmental complications including short stature and facial, skeletal and urogenital anomalies. The...

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Bibliographic Details
Main Authors: Ignacio Briceno, Julio Martinez, M. Reza Jabalameli, Reuben J. Pengelly, Sarah Ennis, Andrew Collins
Format: Article
Language:English
Published: AIMS Press 2016-03-01
Series:AIMS Genetics
Subjects:
Aarskog-Scott Syndrome
<em>FGD1</em> gene
genetic heterogeneity
phenotypic heterogeneity
next generation sequencing
Online Access:http://www.aimspress.com/Genetics/article/713/fulltext.html

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http://www.aimspress.com/Genetics/article/713/fulltext.html

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