Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
出版年份 2021 全文链接
标题
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
作者
关键词
-
出版物
BMC Medical Genomics
Volume 14, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-12-20
DOI
10.1186/s12920-021-01148-x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A de novo heterozygous variant in KAT6A is associated with a newly named neurodevelopmental disorder Arboleda-Tham syndrome—a case report
- (2021) Mingyan Jiang et al. Translational Pediatrics
- Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
- (2020) Roser Urreizti et al. Orphanet Journal of Rare Diseases
- The Human Phenotype Ontology in 2021
- (2020) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
- (2020) Yung-Feng Lin et al. Molecular Genetics and Metabolism Reports
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
- (2019) Siddharth Srivastava et al. GENETICS IN MEDICINE
- A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
- (2018) Joanne Trinh et al. JOURNAL OF HUMAN GENETICS
- KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- (2018) Joanna Kennedy et al. GENETICS IN MEDICINE
- Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
- (2017) Sophie Nambot et al. GENETICS IN MEDICINE
- Food allergy in a child with de novo KAT6A mutation
- (2017) Varpu Elenius et al. Clinical and Translational Allergy
- Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
- (2016) Francisca Millan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
- (2016) Alexandra Gauthier-Vasserot et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human Disease
- (2016) Fu Huang et al. MOLECULAR AND CELLULAR BIOLOGY
- Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
- (2015) Emma Tham et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
- (2015) Valerie A. Arboleda et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evaluation and Diagnosis of the Dysmorphic Infant
- (2015) Kelly L. Jones et al. CLINICS IN PERINATOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- MOZ increases p53 acetylation and premature senescence through its complex formation with PML
- (2013) S. Rokudai et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Moz and Retinoic Acid Coordinately Regulate H3K9 Acetylation, Hox Gene Expression, and Segment Identity
- (2009) Anne K. Voss et al. DEVELOPMENTAL CELL
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now