Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.
|
30716475 |
2020 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we report a patient that expands the clinical description of CdLS type 4 and presents with a novel RAD21 p.(Glu592del) variant that causes a disturbed RAD21-SMC1A interface according to in silco structural modeling.
|
30125677 |
2019 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Pathogenic genetic variants encoding cohesion complex subunits and interacting proteins (e.g., NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major causes of CdLS.
|
31337854 |
2019 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
In conclusion, we report a patient that expands the clinical description of CdLS type 4 and presents with a novel RAD21 p.(Glu592del) variant that causes a disturbed RAD21-SMC1A interface according to in silco structural modeling.
|
30125677 |
2019 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes.
|
30606125 |
2019 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21.
|
30614194 |
2019 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases.
|
29279609 |
2018 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex.
|
29155047 |
2018 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
|
27620904 |
2017 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
|
27882533 |
2017 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
|
27882533 |
2017 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies.
|
27164022 |
2016 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.
|
25378554 |
2015 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) spectrum disorders are characterized by multiple organ system congenital anomalies that result from mutations in genes encoding core cohesin proteins SMC1A, SMC3, and RAD21, or proteins that regulate cohesin function such as NIPBL and HDAC8.
|
26463496 |
2015 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in core cohesin subunits SMC1A, SMC3 and RAD21, or their regulators NIPBL and HDAC8, cause Cornelia de Lange syndrome (CdLS).
|
26581180 |
2015 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes.
|
25655089 |
2015 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement.
|
24874887 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of clinically diagnosed CdLS cases.
|
24756084 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS.
|
25125236 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS.
|
25125236 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
This study expands the spectrum of RAD21 mutations and emphasizes the clinical utility of performing RAD21 mutation analysis in patients presenting with atypical forms of CdLS.
|
24378232 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS.
|
24918291 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly disorder resulting from mutations in genes that encode the core components of the cohesin complex, SMC1A, SMC3, and RAD21, or two of its regulatory proteins, NIPBL and HDAC8.
|
25075551 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS.
|
24352918 |
2014 |
Cornelia De Lange Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study expands the spectrum of RAD21 mutations and emphasizes the clinical utility of performing RAD21 mutation analysis in patients presenting with atypical forms of CdLS.
|
24378232 |
2014 |