Unmasking Kabuki syndrome
Author:
Affiliation:
1. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD); University of Cologne; Cologne Germany
Funder
German Federal Ministry of Education and Research (BMBF)
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference82 articles.
1. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation;Kuroki;J Pediatr,1981
2. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981
3. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients;Niikawa;Am J Med Genet,1988
4. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome;White;Am J Med Genet A,2004
5. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010
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3. Chromatin condensates tune nuclear mechano-sensing in Kabuki Syndrome by constraining cGAS activation;2024-05-06
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