eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | crouzon disease |
| Comorbidity | C0000889|acanthosis nigricans |
| Sentences | 10 |
| PubMedID- 25442473 | These clinical anomalies suggested a case of crouzon syndrome with acanthosis nigricans, which was later confirmed by the finding of a mutation in the fgfr3 gene. |
| PubMedID- 23986840 | crouzon syndrome associated with acanthosis nigricans: prenatal 2d and 3d ultrasound findings and postnatal 3d ct findings. |
| PubMedID- 21136065 | crouzon syndrome with acanthosis nigricans: a case-based update. |
| PubMedID- 23571469 | Cutaneous features of crouzon syndrome with acanthosis nigricans. |
| 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- 23437153 | The low expression of the mutant, however, attenuates its signaling and may explain the mild phenotype in crouzon syndrome 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. |
| 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- 20061739 | A rare association of acanthosis nigricans with crouzon syndrome. |
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