eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | acanthosis nigricans |
| Symptom | C0010273|crouzon syndrome |
| Sentences | 10 |
| PubMedID- 26244699 | First, we show that the a391e mutation, linked to crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances fgfr3 dimerization in the absence of ligand and thus induces aberrant receptor interactions. |
| PubMedID- 22529939 | However, the a391e mutation causes a distinctly different phenotype, crouzon syndrome with acanthosis nigricans, a disorder which impacts predominantly the cranial bones and the skin , not the long bones. |
| PubMedID- 23986840 | crouzon syndrome with acanthosis nigricans (can) is caused by a specific ala391glu mutation in the fgfr3 gene on chromosome 4. the entity was initially described by meyer et al. |
| PubMedID- 23571469 | Importance: crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the fgfr3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. |
| PubMedID- 24476664 | Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome. |
| PubMedID- 23437153 | The low expression of the mutant, however, attenuates its signaling and may explain the mild phenotype in crouzon syndrome with acanthosis nigricans. |
| PubMedID- 21136065 | crouzon syndrome with acanthosis nigricans: a case-based update. |
| PubMedID- 25442473 | Background: crouzon syndrome with acanthosis nigricans is a rare form of crouzon syndrome in which craniosynostosis and facial dysmorphism are associated with acanthosis nigricans. |
| PubMedID- 22649697 | In particular, gly380arg and ala391glu mutations in the tmregion of fgfr3 cause lethal dysplasia , respectively. |
| PubMedID- 20061739 | A rare association of acanthosis nigricans with crouzon syndrome. |
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