共 50 条
- [23] A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis Journal of Endocrinological Investigation, 2003, 26 : 1117 - 1119
- [25] Inguinal Hernia in a Phenotypic Female Infant May Reveal a 46XY Sex Reversal, Supported by the Identification of a Novel SF1 Gene Mutation HORMONAL AND GENETIC BASIS OF SEXUAL DIFFERENTIATION DISORDERS AND HOT TOPICS IN ENDOCRINOLOGY, 2011, 707 : 149 - 150
- [27] 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 HORMONE RESEARCH IN PAEDIATRICS, 2012, 78 (02): : 119 - 126
- [30] Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis (vol 89, pg 4480, 2004) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (11): : 5453 - 5453