eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | acanthosis nigricans |
| Comorbidity | C0010273|crouzon syndrome |
| Sentences | 10 |
| 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- 21136065 | Background: crouzon syndrome with acanthosis nigricans also named crouzono-dermo-skeletal is a clinically and genetically distinct entity. |
| 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- 23986840 | crouzon syndrome associated with acanthosis nigricans: prenatal 2d and 3d ultrasound findings and postnatal 3d ct findings. |
| PubMedID- 23571469 | Cutaneous features of crouzon syndrome with acanthosis nigricans. |
| 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- 20061739 | A rare association of acanthosis nigricans with crouzon syndrome. |
| 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 [47], not the long bones. |
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