𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cerebro-oculo-facio-skeletal syndrome: Further delineation

✍ Scribed by Gershoni-Baruch, Ruth ;Ludatscher, Ruth M. ;Lichtig, Chaim ;Sujov, Polo ;Machoul, Imad


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
482 KB
Volume
41
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Further delineation of cerebro-osteo-nep
✍ Udler, Yevgenia; Halpern, Gabrielle J.; Sher, Carron; Davidovitz, Miriam; Shohat πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 3 views

We describe an Israeli Jewish child of Yemenite origin who may be affected with ''cerebro-osteo-nephrosis.'' She is short of stature (height below 3rd centile) due to skeletal abnormalities. She has minor anomalies and borderline intelligence. There is marked proteinuria and she is in kidney failure

Further delineation of the phenotype res
✍ Karen W. Gripp; Angela E. Lin; Linda Nicholson; William Allen; Andrea Cramer; Ke πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 185 KB πŸ‘ 2 views

## Abstract Because Cardio‐facio‐cutaneous (CFC) syndrome has significant phenotypic overlap with Costello syndrome, it may be difficult to establish the diagnosis on a clinical basis. The recent discoveries of germline __HRAS__ mutations in patients with Costello syndrome and mutations in __BRAF__