rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
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 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
|
16181229 |
2005 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
|
15770495 |
2005 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
|
15064320 |
2004 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
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 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
|
12843198 |
2003 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
|
10999800 |
2000 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
|
10718838 |
2000 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
|
10898110 |
2000 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
|
9745434 |
1998 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
|
9843052 |
1998 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
|
9208814 |
1997 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
5 alpha-reductase-2 gene mutations in the Dominican Republic.
|
8626825 |
1996 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.
|
8768837 |
1996 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.
|
7554313 |
1995 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
|
1522235 |
1992 |
rs772283403
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|