PedAM
Pediatric Disease Annotations & Medicines
| Disease | acanthosis nigricans |
| Phenotype | C0010273|crouzon syndrome |
| Sentences | 11 |
| PubMedID- 23437153 | The signal attenuation due to decreased surface expression may explain the relatively mild phenotype in crouzon syndrome with acanthosis nigricans. |
| PubMedID- 21136065 | crouzon syndrome with acanthosis nigricans: a case-based update. |
| PubMedID- 23986840 | crouzon syndrome with acanthosis nigricans was initially described by meyer et al. |
| PubMedID- 22649697 | In particular, gly380arg and ala391glu mutations in the tmregion of fgfr3 cause lethal dysplasia [7] andthe crouzon syndrome with acanthosis nigricans [8], respectively. |
| PubMedID- 23762837 | Mutations in fgfr2 cause apert, crouzon, jackson-weiss, and pfeiffer craniosynostosis syndromes, while mutations in fgfr1 cause pfeiffer syndrome and mutations in fgfr3 cause muenke craniosynostosis syndrome and crouzon syndrome with acanthosis nigricans [13–17]. |
| 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 [47], not the long bones. |
| 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- 20061739 | A rare association of acanthosis nigricans with crouzon syndrome. |
| 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- 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- 24476664 | Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome. |
Page: 1