• <em>SETD5</em> Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
• 16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
• A case of early-onset Parkinson's disease in a patient with KBG syndrome
• A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
• A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome
• A heterozygous point mutation of the ANKRD11 (c.2579C&gt;T) in a Chinese patient with idiopathic short stature
• A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome
• Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations
• Analysis of ANKRD11 gene variant in a family affected with KBG syndrome
• Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene
• ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
• ANKRD11 variants: KBG syndrome and beyond
• Audiological phenotypes of KBG syndrome: a case report and literatures review
• Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
• Barriers to transition from pediatric to adult care for patients with Dravet syndrome: A focus group study of caregivers
• Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians
• Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes
• Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome
• Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene
• Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
• Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases
• Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
• Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report
• Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance
• Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study
• Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome
• Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
• Congenital heart defects in molecularly confirmed KBG syndrome patients
• Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients
• Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
• Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
• Dental health in persons with disability
• Disease-associated c-MYC downregulation in human disorders of transcriptional regulation
• Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome
• Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome
• DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome
• Ear lobe creases: A novel phenotypic feature in KBG syndrome
• Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review
• Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant
• Epilepsy in KBG syndrome
• Epilepsy in KBG Syndrome: Report of Additional Cases
• Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
• Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype
• Expanding the Molecular Spectrum of <em>ANKRD11</em> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
• Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
• Exploring the behavioral and cognitive phenotype of KBG syndrome
• Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
• Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome
• Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene
• Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature
• GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
• Globe-shaped central incisors in a patient with otodental syndrome
• Growth hormone therapy for children with KBG syndrome: A case report and review of literature
• Identification of Novel <em>FBN2</em> Variants in a Cohort of Congenital Contractural Arachnodactyly
• Identification of Two Novel <em>ANKRD11</em> Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
• Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
• Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age
• Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search
• Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome
• KBG syndrome in a Chinese population: A case series
• KBG syndrome in two patients from Egypt
• KBG syndrome mimicking genetic generalized epilepsy
• KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
• KBG syndrome presenting with brachydactyly type E
• KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
• KBG syndrome: Common and uncommon clinical features based on 31 new patients
• KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
• MACRODONTIA: A brief overview and a case report of KBG syndrome
• Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
• Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
• Natural history of adults with KBG syndrome: A physician-reported experience
• Natural history of KBG syndrome in a large European cohort
• Needle breakage during an inferior alveolar nerve block in a child with KBG syndrome: A case report
• Neurobehavioral characteristics of mice with <em>SETD5</em> mutations as models of IDD23 and KBG syndromes
• Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
• Novel Mutations and Unreported Clinical Features in KBG Syndrome
• Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype
• Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome
• Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome
• Ocular manifestations in a cohort of 43 patients with KBG syndrome
• Olfactory bulb anomalies in KBG syndrome mouse model and patients
• Ophthalmologic signs in a KBG syndrome, a rare genetic disease
• Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
• Possible Gynecologic Manifestations of Keishi-Bukuryo-Gan Syndrome: A Case Report
• Predictors of Adherence Among Patients With Multiple Sclerosis Using the BETACONNECT^® Autoinjector: A Prospective Observational Cohort Study
• Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
• SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
• Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion
• Tethered cord syndrome in KBG syndrome
• The Chromatin Regulator <em>Ankrd11</em> Controls Palate and Cranial Bone Development
• The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function
• The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
• The first Danish patient with a recognisable genetic KBG syndrome
• Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
• Two case reports of KBG syndrome with Dandy-Walker variant
• Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway
• Two Novel Mutations of <em>ANKRD11</em> Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
• Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
• Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the <em>ANKRD11</em> Gene or Submicroscopic Chromosomal Rearran
• Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3