La sindrome di Kleefstra
Author:
Affiliation:
1. UOC di Pediatria, Centro Fondazione Mariani per il Bambino Fragile, ASST Lariana, Como
Abstract
Publisher
Medico e Bambino
Reference9 articles.
1. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance
2. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
3. Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
4. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
5. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
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