Disease: Langer-Giedion Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.030 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
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.030 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
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		0.030 GeneticVariation 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