Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong-Reference-Cited by-同舟云学术

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Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong

Published:2020-12-13 Issue:3 Volume:185 Page:675-686
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

So Po L.¹^ORCID,Luk Ho M.²^ORCID,Yu Kris P. T.²,Cheng Shirley S.W.²,Hau Edgar W. L.²,Ho Stephanie K. L.²,Lam Stephen T. S.³,Lo Ivan F. M.²

Affiliation:

1. Department of Obstetrics and Gynecology Tuen Mun Hospital Hong Kong SAR China

2. Clinical Genetic Service, Department of Health Hong Kong Children's Hospital Hong Kong SAR China

3. Clinical Genetics Service Hong Kong Sanatorium and Hospital Hong Kong SAR China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62003

Reference40 articles.

1. Kabuki syndrome: international consensus diagnostic criteria

2. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development

3. NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

4. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Cited by 9 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. Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome;Diagnostics;2024-08-20

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

3. Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus;Endocrinology, Diabetes & Metabolism Case Reports;2024-01-01

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

5. From Genotype to Phenotype—A Review of Kabuki Syndrome;Genes;2022-09-29

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