Kleefstra Syndrome
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Last Posted: Mar 15, 2023
- The role of the gut microbiota in patients with Kleefstra syndrome.
Bloemendaal Mirjam, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2023 0 - [Kleefstra syndrome 1 and ring chromosome 9 in a case].
Lyu Nan, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (8) 837-840 - [Genetic analysis of three patients with Kleefstra syndrome].
Gong Yuhong, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 0 (4) 347-350 - MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.
Stefekova Andrea, et al. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021 3 - Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar - Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.
Balan Shabeesh, et al. Molecular autism 2014 0 (1) 49 - Kleefstra syndrome
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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