|
rs1217623435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two additional heterozygous missense variants, c.251G>T p.(Gly84Val) and c.1277T>G p.(Leu426Arg), located in the N-terminus and the ligand-binding domain of ER-β, were found in unrelated, nonsyndromic 46,XY DSD cases.
|
29261182 |
2018 |
|
rs121918654
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency.
|
29151085 |
2018 |
|
rs104894119
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case.
|
27855412 |
2017 |
|
rs121907900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.
|
29320783 |
2017 |
|
rs773720185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations T54A and L194P, despite normal protein expression, completely abolished 17β-HSD3 activity, explaining their severe 46,XY DSD phenotype.
|
28859874 |
2017 |
|
rs1443135220
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
|
26545797 |
2016 |
|
rs747724352
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
|
26545797 |
2016 |
|
rs1213451480
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia.
|
24905461 |
2014 |
|
rs267599353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a 46,XY DSD patient with a homozygous c.307C>T (p.R103X) mutation in the SRD5A2 gene.
|
22876553 |
2012 |
|
rs121434244
|
|
|
0.010 |
GeneticVariation |
BEFREE |
AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p.Y91D, p.G115D, p.Q126R, p.R171S, p.Y188CfsX9, p.N193S, p.A207D, p.F219SfsX60, p.R227Q and p.R246W) in nine index patients (6.2% of the total number of 46,XY DSD patients).
|
21631525 |
2011 |