Immunologic assessment and KMT2D mutation detection in Kabuki syndrome-Reference-Cited by-同舟云学术

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

Published:2014-10-14 Issue:3 Volume:88 Page:255-260
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lin J.-L.¹,Lee W.-I.²³,Huang J.-L.²³,Chen P. K.-T.⁴,Chan K.-C.⁵,Lo L.-J.⁴,You Y.-J.¹,Shih Y.-F.²,Tseng T.-Y.²,Wu M.-C.¹

Affiliation:

1. Division of Genetics and Endocrinology

2. Primary Immunodeficiency Care and Research (PICAR) Institute

3. Division of Allergy, Asthma and Rheumatology; Department of Pediatrics

4. Division of Plasty; Department of Surgery

5. Division of Ear, Nose and Throat, Department of Surgery; Chang Gung University College of Medicine and Chang Gung Children's and Memorial Hospital; Taoyuan Taiwan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012

2. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome;Hannibal;Am J Med Genet A,2011

3. Immune abnormalities are a frequent manifestation of Kabuki syndrome;Makrythanasis;Am J Med Genet A,2005

4. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients;Micale;Orphanet J Rare Dis,2011

5. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat Genet,2010

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1. Case report: Macrophage activation syndrome in a patient with Kabuki syndrome;Frontiers in Immunology;2024-07-30

2. Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome;Journal of the Endocrine Society;2024-05-21

3. KMT2D regulates activation, localization, and integrin expression by T-cells;Frontiers in Immunology;2024-05-03

4. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet);Journal of Clinical Immunology;2024-04-27

5. Neonatal Kabuki syndrome caused by KMT2D mutation: A case report;Medicine;2023-12-15