Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect-Reference-Cited by-同舟云学术

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Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect

Published:2020-02-24 Issue:5 Volume:97 Page:779-784
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mathorne Stine W.¹,Ravn Pernille²,Hansen Dorte³,Beck‐Nielsen Signe S.⁴,Gjørup Hans⁵,Sørensen Kristina P.¹,Fagerberg Christina R.¹^ORCID

Affiliation:

1. Department of Clinical GeneticsOdense University Hospital Odense Denmark

2. Department of Gynecology and ObstetricsOdense University Hospital Odense Denmark

3. H C Andersen Children's HospitalOdense University Hospital Odense Denmark

4. Center for Rare DiseasesAarhus University Hospital Aarhus Denmark

5. Center for Oral Health in Rare Diseases, Department of Maxillofacial SurgeryAarhus University Hospital Aarhus Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13725

Reference27 articles.

1. Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27

2. p63-Associated Disorders

3. Pattern ofp63 mutations and their phenotypes—update

4. Splitting p63

5. p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Cited by 8 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. Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency;Journal of Assisted Reproduction and Genetics;2023-07-15

2. TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis;Journal of Clinical Investigation;2023-03-01

3. Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset;Frontiers in Endocrinology;2021-11-04

4. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency;Human Reproduction;2021-09-04

5. Isoform-Specific Roles of Mutant p63 in Human Diseases;Cancers;2021-01-31

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