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KBG syndrome in a cohort of Italian patients

✍ Scribed by Brancati, Francesco ;D'Avanzo, Maria Gabriella ;Digilio, Maria Cristina ;Sarkozy, Anna ;Biondi, Massimo ;De Brasi, Davide ;Mingarelli, Rita ;Dallapiccola, Bruno


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
211 KB
Volume
131A
Category
Article
ISSN
0148-7299

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## Communicated by Riccardo Fodde Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In th