BACKGROUND Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with ...

Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic ...

A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease.

Introduction Inherited bone marrow failure syndromes (IBMFSs) often have substantial phenotypic overlap, thus genotyping is often critical for establishing a diagnosis. Objectives and methods To ...

Background: Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the HFE gene. They have variable expression of iron overload and present with a variety of ...

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 ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer. 19 genes responsible for these conditions are known, but many severely ...

Lynch syndrome (LS) is an autosomal dominant inherited cancer susceptibility syndrome, resulting from a pathogenic variant affecting DNA mismatch repair genes. Identified carriers require lifelong ...

Morison LD, Kennis MG, Rots D, et al. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in … ...

Background Advances in prostate cancer (PCa) research have revealed dozens of genetic markers for inherited risk. Germline genetic testing (GGT) enhances patient care by guiding therapeutic decisions ...