Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
|
24864036 |
2014 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
9950359 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
|
23378035 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.
|
18344207 |
2008 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Growth and development in thanatophoric dysplasia - an update 25 years later.
|
25356217 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
|
17033969 |
2006 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.
|
25931420 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
|
10777366 |
2000 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
|
23165795 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Brain and bone abnormalities of thanatophoric dwarfism.
|
19098178 |
2009 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Comparison of clinical-radiological and molecular findings in hypochondroplasia.
|
9450868 |
1998 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
|
12707965 |
2003 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
"Let's call it ""Crouzonodermoskeletal syndrome"" so we won't be prisoners of our own conventional terminology."
|
10213050 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Crouzon with acanthosis nigricans. Further delineation of the syndrome.
|
17935505 |
2007 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Significant phenotypic variability of Muenke syndrome in identical twins.
|
19449410 |
2009 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Achondroplasia: from genotype to phenotype.
|
17950653 |
2008 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variation in LADD syndrome.
|
4078868 |
1985 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
|
9580776 |
1998 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Muenke syndrome: An international multicenter natural history study.
|
26740388 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The frequency of mental retardation in hypochondroplasia.
|
1956068 |
1991 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
|
18000976 |
2007 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
|
22045636 |
2012 |