Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family-Reference-Cited by-同舟云学术

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

Published:2021-01-20 Issue:3 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Peng Ying¹^ORCID,Yang Shuting¹,Xi Hui¹,Hu Jiancheng¹,Jia Zhengjun¹,Pang Jialun¹,Liu Jing¹,Yu Wenxian¹,Tang Chengyuan²,Wang Hua¹

Affiliation:

1. Department of Medical Genetics National Health Commission Key Laboratory of Birth Defects ResearchHunan Provincial Maternal and Child Health Care Hospital Changsha China

2. Department of Nephrology Hunan Key Laboratory of Kidney Disease and Blood Purification The Second Xiangya HospitalCentral South University Changsha China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1604

Reference21 articles.

1. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

2. DNA Damage in Oocytes Induces a Switch of the Quality Control Factor TAp63α from Dimer to Tetramer

3. Isoforms of Np63 and the migration of ocular limbal cells in human corneal regeneration

4. A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing

5. Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

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