NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development

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Hormone Research in Paediatrics, Vol. 81, Iss. 2, 2014-01 ,pp. : 104-108

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Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

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Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients

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The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

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Comment on the Paper Entitled ‘Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients'

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Hormone Research in Paediatrics, Vol. 81, Iss. 6, 2014-05 ,pp. : 428-428

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