✦ LIBER ✦

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

✍ Scribed by Ruiz-Perez, Victor L.; Ide, Susan E.; Strom, Tim M.; Lorenz, Bettina; Wilson, David; Woods, Kathryn; King, Lynn; Francomano, Clair; Freisinger, Peter; Spranger, Stephanie

Book ID: 109827765
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 491 KB
Volume: 24
Category: Article
ISSN: 1061-4036
DOI: 10.1038/73508

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Erratum to “Mutations in a new gene in E

Erratum to “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”

✍ Eisenstein, Michael 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 77 KB

Ellis–van Creveld syndrome and Weyers ac

Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

✍ Victor L. Ruiz-Perez; Judith A. Goodship 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB

## Abstract Ellis–van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic domina

A novel missense mutation in the EVC gen

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family

✍ Umm-e-Kalsoom; Naveed Wasif; Muhammad Tariq; Wasim Ahmad 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 464 KB

SequencingEVCandEVC2identifies mutations

SequencingEVCandEVC2identifies mutations in two-thirds of Ellis–van Creveld syndrome patients

✍ Stuart W. J. Tompson; Victor L. Ruiz-Perez; Helen J. Blair; Stephanie Barton; Vi 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 390 KB

Growth hormone analysis and treatment in

Growth hormone analysis and treatment in Ellis–van Creveld syndrome

✍ Florens G.A. Versteegh; Sannine A. Buma; Gertrude Costin; Wilfried C. de Jong; R 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 233 KB 👁 2 views

Mutations in the EVC1 gene are not a com

Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes

✍ Takamine, Yuji ;Krejci, Pavel ;Mekikian, Pertchoui B. ;Wilcox, William R. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 2 views