Werner, Rothmund-Thompson, and Bloom syndromes all present with characteristic cutaneous findings during childhood and a predisposition for highgrade osteosarcoma, often at unusual locations, such as the patella. Although each of these syndromes maps to a unique genetic locus, the gene products share significant sequence homology. The latter finding is intriguing given the clinical similarities...

ABSTRACT This paper reports on a patient with initial clinical diagnosis of Autism Spectrum Disorder level 3 and genetically confirmed as Syngap1 Syndrome (Synaptic RasGTPase activating protein). study aimed to show the importance genetic testing accurate diagnoses associated syndromes for planning accomplishment dental treatments. The new allowed reorganization plan was useful in decision-maki...

premenstrual syndromes (pms) are a group of menstrually related, chronic and cyclical disorders characterized by emotional, behavioral, and physical symptoms in the second half (luteal phase) of the menstrual cycle. several line of evidence point to a significant role of the serotonergic system in the course of the luteal phase in women with pms/ premenstrual dysphoric disorder. it has been rep...

histiocytic syndromes have been studied and investigated in these recent years for their cell origin, morphology, pathology, histochemical, immuno-phenotype characteristic, and their nomenclature, but the results of all these studies are confusingly, vague and not acceptable for all scientists and pathologists. histiocytes very in the morphology, duty and their immunological behaviour. in diffe...

Cranial motor and sensory nerves arise stereotypically in the embryonic hindbrain, act as sensitive indicators of general and region-specific neuronal development, and are directly or indirectly affected in many human disorders, particularly craniofacial syndromes. The molecular genetic hierarchies that regulate cranial nerve development are mostly unknown. Here, we describe the first mouse gen...

The paraganglioma (PGL) syndromes types 1-5 are autosomal dominant disorders characterized by familial predisposition to PGLs, phaeochromocytomas (PCs), renal cell cancers, gastrointestinal stromal tumours and, rarely, pituitary adenomas. Each syndrome is associated with mutation in a gene encoding a particular subunit (or assembly factor) of succinate dehydrogenase (SDHx). The clinical manifes...

Genomic instability is the driving force behind cancer development. Human syndromes with DNA repair deficiencies comprise unique opportunities to study the clinical consequences of faulty genome maintenance leading to premature aging and premature cancer development. These syndromes include chromosomal breakage syndromes with defects in DNA damage signal transduction and double-strand break rep...

A prominent J wave is encountered in a number of life-threatening cardiac arrhythmia syndromes, including the Brugada syndrome and early repolarization syndromes. Brugada syndrome and early repolarization syndromes differ with respect to the magnitude and lead location of abnormal J waves and are thought to represent a continuous spectrum of phenotypic expression termed J-wave syndromes. Despit...

BACKGROUND Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general population; however, no meta-analysis has provided prevalence data within and between syndromes. In this systematic review and meta-analysis, we aimed to synthesise data from a wide range of papers to provide accurate estimates about ASD phenomenol...