A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split‐hand/foot malformation with hypodontia
Author:
Affiliation:
1. School of Life SciencesCentral South University Changsha China
2. Department of OrthopaedicsXiangya Hospital of Central South University Changsha China
3. XiangYa School of MedicineCentral South University Changsha China
Funder
Fundamental Research Funds for Central Universities of the Central South University
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3122
Reference30 articles.
1. Contribution of p53, p63, and p73 to the developmental diseases and cancer;Tomkova K;Neoplasma,2008
2. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
3. Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
4. Expanding the phenotypic spectrum of TP63 -related disorders including the first set of monozygotic twins
5. Pattern ofp63 mutations and their phenotypes—update
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1. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3;Ophthalmic Genetics;2023-05-09
2. GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis;Frontiers in Cell and Developmental Biology;2022-01-11
3. Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing;Frontiers in Genetics;2021-08-11
4. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family;Molecular Genetics & Genomic Medicine;2021-01-20
5. A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation;BioMed Research International;2020-11-26
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