|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
BEFREE |
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency.
|
31277073 |
2019 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
|
25605705 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
|
22453073 |
2012 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
|
20736251 |
2011 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
|
19342739 |
2009 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
|
15770495 |
2005 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
|
16098368 |
2005 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
|
16181229 |
2005 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
|
15064320 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
|
15528927 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.
|
14594182 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
|
15064320 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
|
12843198 |
2003 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
|
12843198 |
2003 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
|
10718838 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
|
10898110 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
|
10898110 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
|
10898110 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
|
10999800 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
|
9745434 |
1998 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
|
9843052 |
1998 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
|
9208814 |
1997 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.
|
8768837 |
1996 |