×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.
8434615
1993
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
10712195
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
15866163
2005
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
11719191
2001
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
28575650
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
7573032
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
7573032
1995
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
24614104
2014
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
15866164
2005
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
15866164
2005
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Wnt/beta-catenin pathway.
15713948
2005
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Crystal structure of a full-length beta-catenin.
18334222
2008
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
15805158
2005
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
27915094
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
11343323
2001
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Wnt/β-catenin signaling and disease.
22682243
2012
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
24614104
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.
10735635
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.
25245177
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Multiple congenital anomalies
0.400
CausalMutation
CLINVAR
Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.
9060476
1997
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
Multiple congenital anomalies
0.400
GeneticVariation
CLINVAR
Clinical variability in patients with Apert's syndrome.
10067911
1999