Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by
lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional …

Studies of hereditary cancer syndromes have contributed greatly to our understanding of
molecular events involved in tumorigenesis. Here we investigate the molecular background …

Many human cancer susceptibility genes have been successfully mapped by genetic
linkage studies1. One that has so far eluded researchers is that for Peutz-Jeghers (PJ) …

Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are
often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental …

The regulated proliferation and differentiation of neural stem cells before the generation and
migration of neurons in the cerebral cortex are central aspects of mammalian development …

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with
a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility …

BACKGROUND Juvenile polyposis syndrome (JPS) is characterised by gastrointestinal (GI)
hamartomatous polyposis and an increased risk of GI malignancy. Juvenile polyps also …

Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked
gene FLNA in approximately 50% of patients. Recently we characterized an autosomal …

Juvenile polyps are present in a number of Mendelian disorders, sometimes in association
only with gastrointestinal cancer [juvenile polyposis syndrome (JPS)] and sometimes as part …

Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that
can be caused by mutations in genes encoding components of the non-canonical Wnt …