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Dental Evaluation of Kabuki Syndrome Patients
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2009)
Kabuki syndrome is a genetic disorder of unknown etiology characterized by mental retardation, growth deficiency, and peculiar face (i.e., long palpebral fissures, eversion of the lateral third of the lower eyelids, prominent ...
Dental Findings in Kabuki Syndrome: A Systematic Review for Dentistry
(Facultad de Odontología. Universidad de Costa Rica, 2020)
Complex toe syndactyly with characteristic facial phenotype: A new syndrome?
(Wiley-Blackwell, 2008-07-01)
Nonsyndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and toes that can be cutaneous or bony, unilateral or bilateral. We describe a patient with complex toe syndactyly and oligodactyly, ...
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
(WILEY-BLACKWELLHOBOKEN, 2012)
Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait ...
Neurodesenvolvimento e fenótipo cognitivo comportamental na síndrome kabuki
(Universidade Federal de São Paulo (UNIFESP), 2016-08-25)
Objective: To describe neurocognitive and behavioral aspects in pediatric patients diagnosed with Kabuki Syndrome, a rare genetic condition whose neurobehavioral phenotype is not well known and involves associations with ...
Intervenção fonoaudiológica na síndrome de kabuki: relato de caso
(CEFAC Saúde e Educação, 2014)
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
(Nature, 2020)
Purpose To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a ...
Intervenção fonoaudiológica na síndrome de kabuki: relato de caso
(CEFAC Saúde e Educação, 2010-08-01)
TEMA: este trabalho teve como objetivo descrever o processo de intervenção fonoaudiológica em um caso de síndrome de Kabuki, com ênfase na terapia de linguagem. PROCEDIMENTOS: trata-se de relato de caso de uma criança de ...