2 results
08/Jun/2019
DOI: 10.31744/einstein_journal/2019RC4577
ABSTRACT Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic […]
Keywords: Basement membrane; Collagen type VII; Epidermolysis bullosa dystrophica; Genetic counseling; Heredity
01/Apr/2017
01/Apr/2017
DOI: 10.1590/S1679-45082017RB4020
ABSTRACT Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, […]
Keywords: Autistic disorder; Genetic counseling; Genetic testing; Microarray analysis; Pathology, molecular