Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

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