𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

✍ Scribed by D. Concolino; G. Roversi; G.L. Muzzi; S. Sestito; E.A. Colombo; L. Volpi; L. Larizza; P. Strisciuglio


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
259 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Delineation of the Marfan phenotype asso
✍ Putnam, Elizabeth A.; Cho, Mimi; Zinn, Arthur B.; Towbin, Jeffrey A.; Byers, Pet πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 80 KB πŸ‘ 1 views

Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have

Identification of three novel mutations
✍ Katell Peoc'h; Philippe Manivet; Patrice Beaudry; FranΓ§oise Attane; GΓ©rard Besso πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 49 KB πŸ‘ 1 views

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca