𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Further evidence of genetic heterogeneity in Costello syndrome: involvement of theKRASgene

✍ Scribed by Débora Romeo Bertola; Alexandre Costa Pereira; Amanda Salem Brasil; Lilian Maria José Albano; Chong Ae Kim; José Eduardo Krieger

Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
261 KB
Volume
52
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Evidence for further genetic locus heter
Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome
✍ Juliane Winkelmann; Peter Lichtner; Benno Pütz; Claudia Trenkwalder; Stephanie H 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

## Abstract Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have

Further delineation of cardiac abnormali
Further delineation of cardiac abnormalities in Costello syndrome
✍ Lin, Angela E. ;Grossfeld, Paul D. ;Hamilton, Robert M. ;Smoot, Leslie ;Gripp, K 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB 👁 3 views

We review the cardiac abnormalities in 94 patients (27 new, 67 literature) with Costello syndrome, an increasingly recognized syndrome consisting of increased birth weight, postnatal growth retardation, and distinctive facial, skin, and musculoskeletal features (MIM 218040). A cardiac abnormality wa

Further evidence for genetic heterogenei
Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family
✍ Wang, Tso-Ren ;Lin, Shio-Jean ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 2 views

We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrom