✦ LIBER ✦

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

✍ Scribed by Gil Binenbaum; Donna M. McDonald-McGinn; Elaine H. Zackai; B. Michael Walker; Karlene Coleman; Amy M. Mach; Margaret Adam; Melanie Manning; Deborah M. Alcorn; Carrie Zabel; Dennis R. Anderson; Brian J. Forbes

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 76 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32156

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Malignancy in chromosome 22q11.2 deletio

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

✍ Donna M. McDonald-McGinn; Anne Reilly; Carina Wallgren-Pettersson; H. Eugene Hoy 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB 👁 3 views

Vasomotor instability in neonates with c

Vasomotor instability in neonates with chromosome 22q11 deletion syndrome

✍ Shashi, Vandana ;Berry, Margaret N. ;Hines, Michael H. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 56 KB

Dissecting pulmonary arterial aneurysm a

Dissecting pulmonary arterial aneurysm associated with chromosome 22q11 deletion

✍ Tanaka, Yukichi ;Kato, Yoshikazu ;Kato, Keisuke ;Miyake, Tetsumi ;Ijiri, Rieko ; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB

Mosaicism del(22)(q11.2q11.2)/dup(22)(q1

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

✍ Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Chromosome 22q11.2 deletion in a boy wit

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

✍ Fryburg, Julie S.; Lin, Kant Y.; Golden, Wendy L. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in th

Classical Noonan syndrome is not associa

Classical Noonan syndrome is not associated with deletions of 22q11

✍ Robin, Nathaniel H. ;Sellinger, Beatrice ;McDonald-McGinn, Donna ;Zackai, Elaine 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views