✦ LIBER ✦

Identification of CANT1 Mutations in Desbuquois Dysplasia

✍ Scribed by Céline Huber; Bénédicte Oulès; Marta Bertoli; Mounia Chami; Mélanie Fradin; Yasemin Alanay; Lihadh I. Al-Gazali; Margreet G.E.M. Ausems; Pierre Bitoun; Denise P. Cavalcanti; Alexander Krebs; Martine Le Merrer; Geert Mortier; Yousef Shafeghati; Andrea Superti-Furga; Stephen P. Robertson; Carine Le Goff; Andrea Onetti Muda; Patrizia Paterlini-Bréchot; Arnold Munnich; Valérie Cormier-Daire

Book ID: 113422710
Publisher: American Society of Human Genetics
Year: 2009
Tongue: English
Weight: 979 KB
Volume: 85
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.10.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation of CANT1 causes Desbuquois dysp

Mutation of CANT1 causes Desbuquois dysplasia

✍ Maha Faden; Fatema Al-Zahrani; Dia Arafah; Fowzan S. Alkuraya 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB

XYLT1 Mutations in Desbuquois Dysplasia

XYLT1 Mutations in Desbuquois Dysplasia Type 2

✍ Bui, Catherine; Huber, Céline; Tuysuz, Beyhan; Alanay, Yasemin; Bole-Feysot, Chr 📂 Article 📅 2014 🏛 American Society of Human Genetics 🌐 English ⚖ 939 KB

A phenotype intermediate between Desbuqu

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST

✍ K.M. Panzer; R. Lachman; P. Modaff; R.M. Pauli 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

Identification of novel CBFA1/RUNX2 muta

Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia

✍ C. Bergwitz; A. Prochnau; B. Mayr; F.-J. Kramer; M. Rittierodt; H.-L. Berten; J. 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 98 KB

Novel Mutations in Geleophysic Dysplasia

Novel Mutations in Geleophysic Dysplasia Type 1

✍ Porayette, Prashob; Fruitman, Deborah; Lauzon, Julie L.; Le Goff, Carine; Cormie 📂 Article 📅 2014 🏛 Springer 🌐 English ⚖ 648 KB

Mutation identification in a canine mode

Mutation identification in a canine model of X-linked ectodermal dysplasia

✍ Margret L. Casal; Jennifer L. Scheidt; James L. Rhodes; Paula S. Henthorn; Petra 📂 Article 📅 2005 🏛 Springer-Verlag 🌐 English ⚖ 146 KB