Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement of pathogenic variants to neuroectodermal lineages, frequently resulting ...

7 Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri, USA 8 Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of ...

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...

Background Variants in the type IV collagen gene ( COL4A1/2 ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with ...

Correspondence to Conghai Fan, Xuzhou Children's Hospital, No. 18, Sudibei Road, Xuzhou, Jiangsu 221002, China; fanconghai020{at}163.com The diagnosis of debilitating psychiatric disorders like autism ...

4 Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK ...

The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established.

Background Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and ...

Background Achondroplasia is the most common form of disproportionate short stature and is associated with reduced life expectancy. It is not clear to what extent cardiovascular disease (CVD) is ...

Correspondence to Professor Sahar Mansour, SW Thames Regional Genetics Service, St George's Hospital, London SW17 0RE, UK; smansour{at}sgul.ac.uk Primary lymphatic anomalies may present in a myriad of ...

Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...