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hrp0089p2-p342 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD

Cuccaro Rieko Tadokoro , Thankamony Ajay , Hendriks A Emile J , Alvi Sabah , Armstrong Ruth , Bruty Jonathan , A Hughes Ieuan , L Acerini Carlo

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

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In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD

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