Categorization of the Ehlers‐Danlos syndromes began in the late 1960s and was formalized
in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established …

Parkinson’s disease, the most common age-related movement disorder, is a progressive
neurodegenerative disease with unclear etiology. Key neuropathological hallmarks are Lewy …

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders
and is caused by mutations in the NF1 gene. Mutation detection is complex due to the large …

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders
characterized by increased bone density 1 . The occurrence of one or more of these phenotypes …

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children 1 , 2 , 3 . Identification of four genes mutated in NPHP subtypes 1–4 (refs. 4 – 9 ) has …

Easy bruising and bleeding are not only characteristic manifestations of clotting and platelet
disorders, they are also prominent features in some heritable collagen disorders, such as …

Background Neuroblastoma tumor cells are assumed to originate from primitive neuroblasts
giving rise to the sympathetic nervous system. Because these precursor cells are not …

A reliable and robust method for measuring the expression of alternatively spliced transcripts
is an important step in investigating the significance of each variant. So far, accurate …

Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance
characterized by connective tissue abnormalities. The most specific clinical findings are …

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …