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Isolation and Characterization of a Novel Transcript Embedded within HIRA, a Gene Deleted in DiGeorge Syndrome

✍ Scribed by Antonio Pizzuti; Giuseppe Novelli; Antonia Ratti; Francesca Amati; Roberta Bordoni; Paola Mandich; Emilia Bellone; Emanuela Conti; Mario Bengala; Aldo Mari; Vincenzo Silani; Bruno Dallapiccola

Book ID
115639553
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
220 KB
Volume
67
Category
Article
ISSN
1096-7192

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Characterization of a novel transcript o
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome
✍ Willy M. Nillesen; Helger G. Yntema; Marco Moscarda; Nienke E. Verbeek; Louise C πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 447 KB

The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a cli