A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene-Reference-Cited by-同舟云学术

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

Published:2020-12-23 Issue:2 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Tan Li¹^ORCID,Li Ying²,Liu Fan²,Huang Yufeng¹,Luo Sukun¹,Zhao Peiwei¹,Gu Weiyue³,Lin Jun⁴,Zhou Aifen⁵,He Xuelian¹

Affiliation:

1. Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science & Technology Wuhan China

2. Radiology Department Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science & Technology Wuhan China

3. Chigene (Beijing) Translational Medical Research Center Co., Ltd. Beijing P.R. China

4. Rehabilitation Department Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science & Technology Wuhan China

5. Prenatal Diagnosis Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science & Technology Wuhan China

Funder

Natural Science Foundation of Hubei Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1582

Reference13 articles.

1. Characterization of Functional Domains within the Multifunctional Transcription Factor, YY1

2. ‘Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1’;Cao Y.;Nature Communications,2013

3. De Vries B. B. A.(2019)Gabriele‐de Vries Syndrome Summary Genetic counseling. pp.1–15.