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1
Persistent Mullerian Duct Syndrome presenting as irreducible inguinal hernia – A surprise surgical finding!
Published 2017-01-01Subjects: “…46, XY disorders of sex development…”
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2
Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing
Published 2021-01-01Subjects: Get full text
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3
One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria
Published 2021-10-01Subjects: “…46, XY disorders of sex development…”
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4
A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report
Published 2023-04-01Subjects: “…46,XY disorders of sex development…”
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5
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese
Published 2024-09-01Subjects: “…46,XY disorders of sex development…”
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6
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort
Published 2019-03-01Subjects: Get full text
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7
Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea : Case report
Published 2017-05-01Subjects: “…46, xy disorders of sex development…”
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8
46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report
Published 2022-06-01Subjects: Get full text
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9
Genotype-Phenotype Correlation Analysis of WT1 Gene Variants in Denys-Drash Syndrome and Frasier Syndrome
Published 2024-01-01Subjects: Get full text
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10
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
Published 2020-06-01Subjects: Get full text
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11
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France
Published 2023-02-01Subjects: Get full text
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12
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Published 2022-06-01Subjects: Get full text
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13
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study
Published 2023-09-01Subjects: “…46 xy disorder of sex development…”
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14
An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature
Published 2022-10-01Subjects: Get full text
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