A de novo Mutation inKMT2A(MLL) in monozygotic twins with Wiedemann-Steiner Syndrome-Reference-Cited by-同舟云学术

A de novo Mutation inKMT2A(MLL) in monozygotic twins with Wiedemann-Steiner Syndrome

Published:2015-04-30 Issue:9 Volume:167 Page:2182-2187
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dunkerton Sophie¹,Field Matthew²,Cho Vicki²,Bertram Edward³,Whittle Belinda³,Groves Alexandra⁴,Goel Himanshu¹⁴

Affiliation:

1. University of Newcastle; Callaghan; New South Wales Australia

2. Department of Immunology; John Curtin School of Medical Research; Australian National University; Canberra City Australian Capital Territory Australia

3. Australian Phenomics Facility; The Australian National University; Canberra City Australian Capital Territory Australia

4. Hunter Genetics; Waratah; New South Wales Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37130/fullpdf

Reference15 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Maternal hypomethylation of KvDMR in a monozygotic male twin pair discordant for Beckwith-Wiedemann syndrome;Elalaoui;Mol Syndromol,2014

3. Hypertrichosis cubiti;Flannery;Am J Med Genet,1989

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

5. Wiedemann-Steiner syndrome: Three further cases;Koenig;Am J Med Genet Part A,2010

Cited by 23 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. Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome;Genes;2024-02-06

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

3. Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs;Frontiers in Medicine;2022-04-08

4. Severe Hip Dysplasia in Wiedemann-Steiner Syndrome Treated with Bilateral Bernese Periacetabular Osteotomy;JBJS Case Connector;2022

5. Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene;Orphanet Journal of Rare Diseases;2021-06-26