A Case Report: Co‐Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review
Fuente:
Wiley Open Access
Guardado en:
| Autores principales: | Ying Deng, Chenchen Bu, Zhuoma Basang, Quzhen Zhaxi |
|---|---|
| Formato: | Artículo Open Access |
| Publicado: |
Wiley
2025
|
| Materias: | |
| Acceso en línea: | |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
Assessing Environmental Risks Factors in Anorectal Malformations: Case Report and Literature Review
por: Claudia Ortiz‐Fernandez, et al.
Publicado: (2025)
por: Claudia Ortiz‐Fernandez, et al.
Publicado: (2025)
Impact of TMPRSS6 Genetic Variants on Maternal Iron Status in Pregnancy: A Systematic Review
por: Rezky Fauzan, et al.
Publicado: (2025)
por: Rezky Fauzan, et al.
Publicado: (2025)
A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review
por: Jiaqi Fan, et al.
Publicado: (2025)
por: Jiaqi Fan, et al.
Publicado: (2025)
PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome
por: Jose Antonio Gonzalez, et al.
Publicado: (2025)
por: Jose Antonio Gonzalez, et al.
Publicado: (2025)
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death
por: Nan Huang, et al.
Publicado: (2024)
por: Nan Huang, et al.
Publicado: (2024)
Utility of Electronic Case Reporting for Case Identification in Texas Birth Defects Surveillance
por: R. P. Allred, et al.
Publicado: (2025)
por: R. P. Allred, et al.
Publicado: (2025)
Cardiovascular Ultrasound Predictors for Brain Alterations in Fetuses With Heart Disease: An Exploratory Review of the Literature
por: María Alejandra Aguirre Martínez, et al.
Publicado: (2024)
por: María Alejandra Aguirre Martínez, et al.
Publicado: (2024)
A Supra‐Numerary Limb Grafted Onto a Sacrococcygeal Mass in a Child With Spinal Dysraphism: Case Report, Dysmorphogenesis, and Management Review
por: Kaylene Freitas, et al.
Publicado: (2025)
por: Kaylene Freitas, et al.
Publicado: (2025)
Staff Experiences With Electronic Initial Case Reports for Birth Defects Surveillance in Texas
por: Alexandra Koops, et al.
Publicado: (2025)
por: Alexandra Koops, et al.
Publicado: (2025)
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study
por: Tonia C. Carter, et al.
Publicado: (2025)
por: Tonia C. Carter, et al.
Publicado: (2025)
Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split‐Hand/Foot Malformations ( SHFM1D and SHFM6 )
por: Heba A. Hassan, et al.
Publicado: (2026)
por: Heba A. Hassan, et al.
Publicado: (2026)
Sirenomelia: A Review of European Prevalence Data and Epidemiological Analysis of 17 Cases Registered in Wales
por: Chris Emmerson, et al.
Publicado: (2026)
por: Chris Emmerson, et al.
Publicado: (2026)
Machine Learning‐Based Risk Prediction Models for Pregnancy‐Related Syndromes
por: Yanqi Wu
Publicado: (2026)
por: Yanqi Wu
Publicado: (2026)
Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate
por: Sarah W. Curtis, et al.
Publicado: (2025)
por: Sarah W. Curtis, et al.
Publicado: (2025)
Association Between Self‐Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis
por: M. L. Feldkamp, et al.
Publicado: (2024)
por: M. L. Feldkamp, et al.
Publicado: (2024)
Correction to Association Between Self‐Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis
Publicado: (2024)
Publicado: (2024)
How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia
por: Yunshan Gao, et al.
Publicado: (2026)
por: Yunshan Gao, et al.
Publicado: (2026)
Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings
por: Nataša Karas Kuželički, et al.
Publicado: (2024)
por: Nataša Karas Kuželički, et al.
Publicado: (2024)
BDR Reviewer Thank You
Publicado: (2025)
Publicado: (2025)
Sirenomelia—Challenges and Treatment Approach in a Rare Case
por: Daria Sosińska, et al.
Publicado: (2024)
por: Daria Sosińska, et al.
Publicado: (2024)
Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status—Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016–2019
por: Vanessa I. Villamil, et al.
Publicado: (2025)
por: Vanessa I. Villamil, et al.
Publicado: (2025)
A Narrative Review on the Effect of Valproic Acid on the Placenta
por: Lauren T. L. Brown, et al.
Publicado: (2025)
por: Lauren T. L. Brown, et al.
Publicado: (2025)
Cabergoline Use and Pregnancy Outcomes: A Systematic Review
por: Anne‐Sophie Otis, et al.
Publicado: (2025)
por: Anne‐Sophie Otis, et al.
Publicado: (2025)
Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect
por: Birsen Konukcu
Publicado: (2024)
por: Birsen Konukcu
Publicado: (2024)
Differential Effects of Maternal Exposures on Clubfoot Laterality: A Case–Control Study
por: Sharon M. Casey, et al.
Publicado: (2026)
por: Sharon M. Casey, et al.
Publicado: (2026)
Case–Control Study of Congenital Anomalies: Study Methods and Nonresponse Bias Assessment
por: Amanda Eng, et al.
Publicado: (2025)
por: Amanda Eng, et al.
Publicado: (2025)
Evaluation of Data Sources for Critical Congenital Heart Defect Case Ascertainment in North Carolina
por: Helen Atkinson, et al.
Publicado: (2025)
por: Helen Atkinson, et al.
Publicado: (2025)
Observed Prevalence of Congenital Situs Inversus in the United States Before and During the SARS‐CoV‐2 Pandemic, 2017–2022
por: Janet D. Cragan, et al.
Publicado: (2024)
por: Janet D. Cragan, et al.
Publicado: (2024)
Patterns of Co‐Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital‐Based Surveillance Study
por: Zhi‐Yu Chen, et al.
Publicado: (2025)
por: Zhi‐Yu Chen, et al.
Publicado: (2025)
Understanding Clubfoot: Integrating Historical Origins, Embryologic Foundations, Epidemiology and Etiology—A Review
por: J. S. R. G. Saran, et al.
Publicado: (2025)
por: J. S. R. G. Saran, et al.
Publicado: (2025)
Imbalance of Fetal Growth Factor Levels in Congenital Heart Disease Pathology: A Systematic Review
por: Yazdan Ghandi, et al.
Publicado: (2025)
por: Yazdan Ghandi, et al.
Publicado: (2025)
Cancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review
por: Cesar Ghadbane, et al.
Publicado: (2025)
por: Cesar Ghadbane, et al.
Publicado: (2025)
Domestic Use of Solvents and Pesticides and the Risk of Hypospadias in Offspring: A Case–Control Study From Brittany, France
por: Flore‐Anne Martin, et al.
Publicado: (2025)
por: Flore‐Anne Martin, et al.
Publicado: (2025)
Alcohol exposure during pregnancy induces cardiac mitochondrial damage in offspring mice
por: Yujuan Su, et al.
Publicado: (2024)
por: Yujuan Su, et al.
Publicado: (2024)
Review: Hormone Pregnancy Tests Were Teratogenic by the Same Failed Abortion and Hypoxia‐Related Mechanism as Misoprostol
por: Bengt R. Danielsson, et al.
Publicado: (2025)
por: Bengt R. Danielsson, et al.
Publicado: (2025)
A Scoping Review of Human Teratogens and Their Impact on the Developing Brain: A Contribution From the ConcePTION Project
por: M. Bluett‐Duncan, et al.
Publicado: (2025)
por: M. Bluett‐Duncan, et al.
Publicado: (2025)
Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo
por: Waheed Ahmad, et al.
Publicado: (2024)
por: Waheed Ahmad, et al.
Publicado: (2024)
Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis
por: Chih‐Fu Wei, et al.
Publicado: (2025)
por: Chih‐Fu Wei, et al.
Publicado: (2025)
Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Fistula
por: Nahed O. ElHassan, et al.
Publicado: (2024)
por: Nahed O. ElHassan, et al.
Publicado: (2024)
Community‐Engaged Research and the Use of Open Access ToxVal/ToxRef In Vivo Databases and New Approach Methodologies (NAM) to Address Human Health Risks From Environmental Contaminants
por: Marilyn Silva, et al.
Publicado: (2024)
por: Marilyn Silva, et al.
Publicado: (2024)
Ejemplares similares
-
Assessing Environmental Risks Factors in Anorectal Malformations: Case Report and Literature Review
por: Claudia Ortiz‐Fernandez, et al.
Publicado: (2025) -
Impact of TMPRSS6 Genetic Variants on Maternal Iron Status in Pregnancy: A Systematic Review
por: Rezky Fauzan, et al.
Publicado: (2025) -
A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review
por: Jiaqi Fan, et al.
Publicado: (2025) -
PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome
por: Jose Antonio Gonzalez, et al.
Publicado: (2025) -
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death
por: Nan Huang, et al.
Publicado: (2024)