Wiedemann-steiner syndrome with a de novo mutation in KMT2A-Reference-Cited by-同舟云学术

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Wiedemann-steiner syndrome with a de novo mutation in KMT2A

Published:2020-04 Issue:16 Volume:99 Page:e19813
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Jinxiu Liu,Shuimei Liang,Ming Xue,Jonathan Liu CS.,Xiangju Liu,Wenyuan Duan

Funder

National Basic Research Program of China

Shandong Provincial Natural Science Foundation

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference16 articles.

1. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome);Oley;J Med Genet,1988

2. Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome;Xue;BMC Med Genet,2015

3. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene;Feldman;Am J Med Genet A,2018

4. Growth deficiency, mental retardation, and unusual facies;Steiner;Clin Dysmorphol,2000

5. De novo mutations in MLL cause Wiedemann-Steiner syndrome;Jones;Am J Hum Genet,2012

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Distinct Roles for COMPASS Core Subunits Set1, Trx, and Trr in the Epigenetic Regulation of Drosophila Heart Development;International Journal of Molecular Sciences;2023-12-09

2. A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome;Molecular Cytogenetics;2023-08-30

3. Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene – a case report;Annals of Agricultural and Environmental Medicine;2023-05-08

4. Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome;Frontiers in Genetics;2023-03-21

5. Wiedemann–Steiner Syndrome: Case Report and Review of Literature;Children;2022-10-12

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