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

โœ Scribed by Digilio, Maria Cristina; Luca, Alessandro De; Lepri, Francesca; Guida, Valentina; Ferese, Rosangela; Dentici, Maria Lisa; Angioni, Adriano; Marino, Bruno; Dallapiccola, Bruno


Book ID
121720663
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
123 KB
Volume
161
Category
Article
ISSN
1552-4825

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Frequent association of 22q11.2 deletion
โœ Maeda, Jun; Yamagishi, Hiroyuki; Matsuoka, Rumiko; Ishihara, Jun; Tokumura, Mits ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 32 KB ๐Ÿ‘ 2 views

Chromosome 22q11.2 deletion causes Di-George syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q 11.2 deletion in TOF, a series of 212 Japanese TOF patients