✦ LIBER ✦

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

✍ Scribed by Ghouzzi, Vincent El; Merrer, Martine Le; Perrin-Schmitt, Fabienne; Lajeunie, Elisabeth; Benit, Paule; Renier, Dominique; Bourgeois, Patrice; Bolcato-Bellemin, Anne-Laure; Munnich, Arnold; Bonaventure, Jacky

Book ID: 109914978
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 817 KB
Volume: 15
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0197-42

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Saethre–Chotzen syndrome caused by TWIST

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

✍ Kress, Wolfram; Schropp, Christian; Lieb, Gabriele; Petersen, Birgit; Büsse-Ratz 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 169 KB

Mutations in TWIST, a basic helix–loop–h

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

✍ Howard, Timothy D.; Paznekas, William A.; Green, Eric D.; Chiang, Lydia C.; Ma, 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 844 KB

Germline mutation in the FGFR3 gene in a

Germline mutation in the FGFR3 gene in a TWIST1-negative family with saethre-chotzen syndrome and breast cancer

✍ Pelle Sahlin; Peter Tarnow; Tommy Martinsson; Göran Stenman 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 241 KB 👁 2 views

Possible genetic heterogeneity in the Sa

Possible genetic heterogeneity in the Saethre-Chotzen syndrome

✍ Hong Wei Ma; Elisabeth Lajeunie; Nathalie de Parseval; Arnold Munnich; Dominique 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 119 KB

Mutations within or upstream of the basi

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

✍ El Ghouzzi, Vincent; Lajeunie, Elisabeth; Le Merrer, Martine; Cormier-Daire, Val 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 372 KB

Breast cancer risk is not increased in i

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study

✍ Paul A. James; Bronwyn Culling; Glenda Mullan; Mark Jenkins; George Elakis; Anne 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 2 views

## Abstract Saethre‐Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential