Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
(IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21.1–p12. We …

Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for the …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare,
neonatally lethal developmental disorder of the lung with defining histologic abnormalities …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …

Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive
condition characterized by sensorineural hearing loss and ovarian failure. By a combination of …

Purpose: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant
disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, …

Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal
dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder caused by …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies,
growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological …