The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series-Reference-Cited by-同舟云学术

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

Published:2019-12-28 Issue:4 Volume:182 Page:640-651
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wang Yirou¹,Li Niu²³^ORCID,Su Zhe⁴,Xu Yufei²³,Liu Shijian²,Chen Yao¹,Li Xin¹,Shen Yiping³⁴⁵^ORCID,Hung Christina⁵,Wang Jian²³,Wang Xiumin¹³,Bodamer Olaf⁵⁶^ORCID

Affiliation:

1. Department of Endocrinology and MetabolismShanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine Shanghai China

2. Institute of Pediatric Translational MedicineShanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine Shanghai China

3. Department of Medical Genetics and Molecular Diagnostic LaboratoryShanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine Shanghai China

4. Department of Endocrinology and MetabolismShenzhen Children's Hospital Shenzhen China

5. Division of Genetics and Genomics, Department of PediatricsBoston Children's Hospital Boston Massachusetts

6. Broad Institute of MIT and Harvard University Cambridge Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61467

Reference37 articles.

1. Kabuki syndrome: international consensus diagnostic criteria

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