Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
Authors
Keywords
-
Journal
Frontiers in Genetics
Volume 8, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2017-12-11
DOI
10.3389/fgene.2017.00210
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- KMT2Dp.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
- (2016) Lauren Badalato et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
- (2014) Nisha Patel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
- (2014) S. Banka et al. CLINICAL GENETICS
- An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome
- (2014) Judith M.A. Verhagen et al. European Journal of Medical Genetics
- CHARGE and Kabuki syndromes: a phenotypic and molecular link
- (2014) Yvonne Schulz et al. HUMAN MOLECULAR GENETICS
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- (2013) P Makrythanasis et al. CLINICAL GENETICS
- KDM6A Point Mutations Cause Kabuki Syndrome
- (2012) Noriko Miyake et al. HUMAN MUTATION
- Mutation update on the CHD7 gene involved in CHARGE syndrome
- (2012) Nicole Janssen et al. HUMAN MUTATION
- Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
- (2011) Damien Lederer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
- (2011) Mark C. Hannibal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- (2011) Siddharth Banka et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A mutation screen in patients with Kabuki syndrome
- (2011) Yun Li et al. HUMAN GENETICS
- Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
- (2011) Lucia Micale et al. Orphanet Journal of Rare Diseases
- Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome
- (2010) Gabriel E. Zentner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- MLL2 mutation spectrum in 45 patients with Kabuki syndrome
- (2010) Aimée D. C. Paulussen et al. HUMAN MUTATION
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
- (2008) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cranial nerve manifestations in CHARGE syndrome
- (2008) Kim D. Blake et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Predictive Factors for Success After Transnasal Endoscopic Treatment of Choanal Atresia
- (2008) Natacha Teissier et al. ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
- Mutations inCHD7in patients with CHARGE syndrome cause TBnatural killer cellsevere combined immune deficiency and may cause Omenn-like syndrome
- (2008) A. R. Gennery et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now