|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Leri-Weill dyschondrosteosis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LWD in the proband and his mother was explained by SHOX haploinsufficiency.
|
11503163 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations of the SHOX gene on the pseudoautosomal region of chromosome X and Y [Belin et al., 1998: Nat Genet 19:67-69; Shears et al., 1998: Nat Genet 19:70-73].
|
11891678 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) are caused by mutations in the SHOX gene.
|
15214013 |
2004 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
|
10626546 |
1999 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
SHOX point mutations in dyschondrosteosis.
|
11403039 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome.
|
11874178 |
2002 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature.
|
21150837 |
2010 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations.
|
25056248 |
2014 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
SHOX abnormalities accounted for 3.8% of ISS and 50% of LWD cases.
|
26984564 |
2016 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
|
31228230 |
2019 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g.Léri-Weill dyschondrosteosis).
|
22946287 |
2012 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius.
|
14557470 |
2003 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri-Weill dyschondrosteosis (LWD), the molecular defect has not been identified in approximately 20% of Japanese LWD patients.
|
18322641 |
2008 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although haploinsufficiency of SHOX may result in Léri-Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient.
|
14981722 |
2004 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
|
10878753 |
2000 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome.
|
16807223 |
2006 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
|
11735031 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably remove an enhancer or enhancers necessary for SHOX expression in developing limbs.
|
30250174 |
2018 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.
|
21912078 |
2011 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).
|
19169498 |
2008 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Defects in SHOX have been identified in approximately 60% of LWD cases, whereas, in the remaining approximately 40%, the molecular basis is unknown.
|
16175500 |
2005 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Defects of the pseudoautosomal homeobox gene SHOX were previously shown to lead to short stature and Leri-Weill syndrome, and haploinsufficiency of SHOX was implicated to cause the short stature phenotype in Turner syndrome.
|
10749976 |
2000 |