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searching for Kabuki syndrome 4 found (36 total)

Alpha-tubulin 3C (1,187 words) [view diff] exact match in snippet view article find links to article

with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. Alternative splicing has been observed for this gene and two variants

Centromere (3,757 words) [view diff] exact match in snippet view article find links to article

Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J (March 1995). "Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome

KDM1A (2,086 words) [view diff] exact match in snippet view article find links to article

and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome". American Journal of Medical Genetics. Part A. 164A (7): 1744–1749

C19Orf81 (1,156 words) [view diff] exact match in snippet view article find links to article

Garcia, B. A., Schuppert, A., Bjornsson, H. T., & Ernst, C. (2022). Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase