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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Hormone Research in Paediatrics, Vol. 78, Iss. 2, 2012-08 ,pp. : 119-126

Karger

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Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency

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Hormone Research in Paediatrics, Vol. 84, Iss. 2, 2015-06 ,pp. : 116-123

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Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

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Hormone Research in Paediatrics, Vol. 75, Iss. 1, 2010-09 ,pp. : 70-77

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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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Hormone Research in Paediatrics, Vol. 80, Iss. 2, 2013-08 ,pp. : 119-128

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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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