Disease: Mental retardation short stature heart and skeletal anomalies
- <em>CTCF</em>-Related Disorder
- <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
- 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
- A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy
- A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
- A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
- Aortic valve regurgitation in a patient affected by KBG syndrome
- Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases
- Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
- Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
- Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
- Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature
- Clinical and molecular spectrum of CHOPS syndrome
- Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
- Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
- Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome
- Congenital NAD Deficiency Disorder
- Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
- De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
- De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
- Down's syndrome: altered chondrogenesis in fetal rib
- Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
- FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia
- Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
- Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies
- Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies
- KBG Syndrome
- KBG syndrome in a cohort of Italian patients
- LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
- Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis
- Mitral and tricuspid valve surgery for Coffin-Lowry syndrome
- Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice
- Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
- Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis
- Noonan syndrome: introduction and basic clinical features
- Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features
- Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
- Perthes disease: A new finding in Floating-Harbor syndrome
- PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
- Report of a trisomy 8p infant with carrier father
- Severe congenital anomalies requiring transplantation in children with Kabuki syndrome
- Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up
- Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision