Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related penetrance characterised by multiple hamartomas and a high risk of breast, thyroid, and perhaps other cancers. These ...

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among ...

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase ...

Purpose Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing ...

Background The genomic contribution to adverse health sequelae in babies born very preterm (<32 weeks’ gestation) is unknown. We conducted an investigation of rare CNVs in infants born very preterm as ...

Background T cell dysfunction occurs in many diseases, especially in chronic virus infection and cancers. However, up to now, little is known on the distinctions in T cell exhaustion between cancer ...

Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is ...

There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has ...

Background Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases ...

Objective: To describe the clinical features of and genetic locus associated with autosomal-dominant macular dystrophy (MCDR5) in a large Greek family. Methods: 26 members of a single family underwent ...

Justification is given for establishing a genetic register system as a means of ascertaining and preventing genetic disease. Such a computerized register system, referred to by the acronym `RAPID' ( R ...

We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in ...