𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Report on two patients with Costello syndrome and sialuria

✍ Scribed by Rocco, Maja Di ;Gatti, Rosanna ;Gandullia, Paolo ;Barabino, Arrigo ;Picco, Paolo ;Borrone, Carla


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
537 KB
Volume
47
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Bladder carcinoma in Costello syndrome:
✍ Franceschini, P.; Licata, D.; Di Cara, G.; Guala, A.; Bianchi, M.; Ingrosso, G.; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 56 KB πŸ‘ 2 views

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Cost

Germline TGF-Ξ² receptor mutations and sk
✍ Salman Kirmani; Peter J. Tebben; Aida N. Lteif; David Gordon; Bart L. Clarke; Th πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 214 KB πŸ‘ 1 views

## Abstract Loeys–Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in __TGFBR1__ and __TGFBR2__ has recently been described as an important cause of familial aortic aneurysms. These patients have craniofacial and skeletal features that overlap with the Marfan syndrome (MFS), and

Postaxial acrofacial dysostosis: Report
✍ Pereira, Sonia C. S. ;Rocha, Christiane M. G. ;Guion-Almeida, M. L. ;Richieri-Co πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 467 KB πŸ‘ 2 views