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References in periodicals archive ?
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients.
Kabuki Syndrome was only discovered in the late 1980s, so no one yet knows how it will develop in adults.
Kabuki Syndrome, which affects one in every 32,000 babies born, was discovered by two Japanese doctors and named because of the facial resemblance to stage make-up worn by actors in the traditional Japanese theatre art, Kabuki.
She was then diagnosed with Kabuki Syndrome by her consultant, which can cause varying degrees of developmental delay and intellectual disability.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation.
2002; Guzman-Acurio, Tumbaco & Jaramillo, 2006; Kabuki Syndrome Network, 2006; Niikawa Kuroki, Kajii, Matsuura, Ishikiriyama & Tonoki, 1988), conhecidas como "Pentade de Niikawa", sao: 1.
Players chose to support research into Kabuki Syndrome after Hannah Lucy Scholes, 6, from Lymm, died from the disease just over a year ago.
His daughter has rare Kabuki syndrome and hypoplastic left heart syndrome and has had major surgery twice.