Disease: Mental retardation short stature unusual facies
- A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome
- An unusual case of KBG syndrome with unique oral findings
- An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3
- CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
- Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome
- Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases
- Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <em>KMT2A</em>-Related Syndrome
- Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases
- Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
- Growth charts for individuals with Rubinstein-Taybi syndrome
- Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome
- KBG syndrome: Common and uncommon clinical features based on 31 new patients
- Late Diagnosis of Congenital Hypothyroidism in Young Adult
- Mucopolysaccharidosis type II with inguinal hernia
- Noonan Syndrome