PedAM
Pediatric Disease Annotations & Medicines
| Disease | crouzon syndrome |
| Symptom | C0000889|acanthosis nigricans |
| Sentences | 12 |
| PubMedID- 22649697 | In particular, gly380arg and ala391glu mutations in the tmregion of fgfr3 cause lethal dysplasia , respectively. |
| 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- 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- 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- 21136065 | Background: crouzon syndrome with acanthosis nigricans also named crouzono-dermo-skeletal is a clinically and genetically distinct entity. |
| PubMedID- 23437153 | crouzon syndrome with acanthosis nigricans has been linked to the a391e mutation in the transmembrane (tm) domain of fibroblast growth factor receptor 3 (fgfr3) . |
| PubMedID- 25129254 | The fgfr-related craniosynostosis spectrum includes ps, apert syndrome, jackson-weiss syndrome, beare-stevenson syndrome, crouzon syndrome, crouzon syndrome with acanthosis nigricans, muenke syndrome, and fgfr2-related isolated coronal synostosis (11,13,22). |
| 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- 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 . |
| 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- 24476664 | Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome. |
| PubMedID- 20061739 | A rare association of acanthosis nigricans with crouzon syndrome. |
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