… the clinical and biochemical features of nearly 50 patients. Included are limited genetic
data based on a chemical definition of the disease(s) called type III hyperlipoproteinemia. …

… the clinical syndromes suggestive of a mitochondrialdisorder, and to understand the
unique features of mitochondrial genetics thatcomplicate diagnosis and genetic counseling. …

Vascular Ehlers Danlos syndrome (EDS) is a rare autosomal dominant inherited disorder of
connective tissue resulting from mutation of the COL3A1 gene encoding type III collagen. …

… mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs …
clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features …

Background Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the
gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and …

Background Cavernous angiomas, which are vascular malformations mostly located in the
central nervous system, may be inherited as an autosomal dominant disorder known as …

… To elucidate the clinical and genetic characteristics … study elucidates genetic alterations and
clinical features of the … SD, 50 f 14 yr), and they were recruited due to a clinically overt MEN-l …

… heart clinic in the same region. The aims of this study were to delineate further the clinical
features of the Noonan syndrome, to analyze the expression of these features within a family …

… features in SNF patients harbouring NF1 gene … NF1 features/complications should be
carefully checked clinically or by other means (eg ultrasonography, x-ray) as dictated by clinical …

… The genetic determinants of COPD and asthma overlap have not been studied. The aim of
this study was to identify clinical features and genetic … distinct clinical group, and our genetic …