Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia SUBJECTS AND METHODS: We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2.
|
30269266 |
2019 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SRD5A2 gene cause 5-α-Reductase deficiency; although it is an infrequent disorder, it has been reported worldwide, with mutational heterogeneity.
|
29858846 |
2018 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
|
28544750 |
2017 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
|
27899157 |
2016 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.
|
26446026 |
2016 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.
|
27070133 |
2016 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
|
25605705 |
2015 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
|
24665940 |
2014 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
|
23633205 |
2013 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
|
22453073 |
2012 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
|
22876553 |
2012 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
|
23329752 |
2012 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The IVS1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect.
|
22001134 |
2012 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
|
21147889 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
|
20736251 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
|
20019388 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
|
21631525 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
|
22272144 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
|
21402750 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.
|
21540559 |
2011 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DNAs of two 46,XY DSD Indonesian siblings, aged 13 and 18 years old, with clinically suspected of 5-alpha-reductase deficiency and their mother were analysed for molecular defects of SRD5A2 gene.
|
21714467 |
2010 |
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.
|
20132346 |
2010 |