PedAM
Pediatric Disease Annotations & Medicines
| Disease | crouzon syndrome |
| Phenotype | C0000889|acanthosis nigricans |
| Sentences | 12 |
| 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- 23437153 | Thus, it can be expected that the pathology in crouzon syndrome with acanthosis nigricans is directly linked to the elevated activation of mutant fgfr3. |
| PubMedID- 24476664 | Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome. |
| PubMedID- 23986840 | crouzon syndrome associated with acanthosis nigricans: prenatal 2d and 3d ultrasound findings and postnatal 3d ct findings. |
| 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- 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- 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- 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- 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. |
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