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2015 | 1 |
2018 | 1 |
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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
BMC Med Genet. 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4.
BMC Med Genet. 2015.
PMID: 25896430
Free PMC article.
Review.
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A.
Merdler-Rabinowicz R, et al.
Eur J Med Genet. 2021 Jun;64(6):104210. doi: 10.1016/j.ejmg.2021.104210. Epub 2021 Mar 30.
Eur J Med Genet. 2021.
PMID: 33794347
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Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
Xin C, et al.
BMC Med Genet. 2018 Feb 27;19(1):31. doi: 10.1186/s12881-018-0545-5.
BMC Med Genet. 2018.
PMID: 29482518
Free PMC article.
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