eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | jackson-weiss syndrome |
| Comorbidity | C0000889|acanthosis nigricans |
| Sentences | 1 |
| PubMedID- 20301628 | The eight disorders comprising the fgfr-related craniosynostosis spectrum are pfeiffer syndrome, apert syndrome, crouzon syndrome, beare-stevenson syndrome, fgfr2-related isolated coronal synostosis, jackson-weiss syndrome, crouzon syndrome with acanthosis nigricans (an), and muenke syndrome (isolated coronal synostosis caused by the p.pro250arg pathogenic variant in fgfr3). |
Page: 1