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Turner Syndrome Genotype and Phenotype and Their Effect on Presenting Features and Timing of Diagnosis

1 Apr 2014

Abstract excerpt

BACKGROUND: Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. METHODS: We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based...

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PMID: 25246887
DOI: 10.12816/0006086

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