Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The GABRD 659 G > A polymorphism may play an important role in the susceptibility of JME and LGS and this polymorphism may also increase the duration of postictal period in JME patients but may decrease the duration of seizure in LGS patients.
|
29785705 |
2018 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4).
|
26522117 |
2015 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene.
|
25899858 |
2015 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Langer-Giedion syndrome (LGS; MIM 150230), also called trichorhinophalangeal syndrome type II (TRPS2), is a contiguous gene syndrome caused by a one-copy deletion in the chromosome 8q23-q24 region, spanning the genes TRPS1 and EXT1.
|
23832104 |
2013 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact.
|
22315192 |
2012 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion.
|
21948702 |
2011 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only.
|
19464398 |
2009 |
Langer-Giedion Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1.
|
18478595 |
2008 |
Langer-Giedion Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.
|
12457403 |
2002 |
Langer-Giedion Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5).
|
10615131 |
2000 |
Langer-Giedion Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities.
|
7711731 |
1995 |
Langer-Giedion Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
|
7550340 |
1995 |
Langer-Giedion Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes.
|
8530105 |
1995 |
Langer-Giedion Syndrome
|
0.600 |
ChromosomalRearrangement
|
disease |
ORPHANET |
|
|
|