✦ LIBER ✦

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

✍ Scribed by Chad R. Haldeman-Englert; Taiyabah Naeem; Elizabeth A. Geiger; Ashley Warnock; Holly Feret; Melissa Ciano; Stefanie L. Davidson; Matthew A. Deardorff; Elaine H. Zackai; Tamim H. Shaikh

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 118 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32980

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenocopy of Wolf–Hirschhorn syndrome in

Phenocopy of Wolf–Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

✍ Bruno Dallapiccola; Laura Bernardini; Antonio Novelli; Rita Mingarelli 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 1 views

Third case of 8q23.3-q24.13 deletion in

Third case of 8q23.3-q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion

✍ Nina Pereza; Srećko Severinski; Saša Ostojić; Marija Volk; Aleš Maver; Kristina 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 1 views

Marfanoid hypermobility caused by an 862

Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome

✍ Keiko Shimojima; Tohru Okanishi; Toshiyuki Yamamoto 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 375 KB 👁 2 views

Identification of a larger than 3 Mb del

Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)

✍ T. Oda; A.G. Elkahloun; P.S. Meltzer; K. Okajima; K. Sugiyama; Y. Wada; S.C. Cha 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 3 views

A de novo 14q12q13.3 interstitial deleti

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

✍ Dora Janeth Fonseca; Carlos Fernando Prada; Luz Miriam Siza; Diana Angel; Yenny 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 308 KB 👁 2 views

Ganglioglioma in a Sotos syndrome patien

Ganglioglioma in a Sotos syndrome patient with anNSD1 deletion

✍ Deardorff, Matthew A. ;Maisenbacher, Melissa ;Zackai, Elaine H. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views