JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot-Reference-Cited by-同舟云学术

JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

Published:2013-08-16 Issue:12 Volume:161 Page:3133-3136
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Digilio Maria Cristina¹,Luca Alessandro De²,Lepri Francesca¹,Guida Valentina²,Ferese Rosangela²,Dentici Maria Lisa¹,Angioni Adriano¹,Marino Bruno³,Dallapiccola Bruno¹

Affiliation:

1. Medical Genetics and Cytogenetics; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

2. Mendel Laboratory; Casa Sollievo Della Sofferenza Hospital, IRCCS; San Giovanni Rotondo Italy

3. Pediatric Cardiology, Department of Pediatrics; Roma-Sapienza University, and Lorillard Spencer Cenci Foundation; Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36148/fullpdf

Reference37 articles.

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3. Two sisters with different microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome;Can;Clin Genet,1998

4. Familial transposition of the great arteries caused by multiple mutations in laterality genes;De Luca;Heart,2010

5. Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism;Derbent;Am J Med Genet,2002

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