2 results

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Denise Maria Christofolini ORCID logo , José Ricardo Magliocco Ceroni ORCID logo , Giovanna Guimarães Soares ORCID logo , Gustavo Bertollini Lamy ORCID logo , Ana Carolina Nemeth Calvo ORCID logo , Tamara Alba dos Santos ORCID logo , [...]

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 […]

Autism spectrum disorders: an updated guide for genetic counseling

Karina Griesi-Oliveira, Andréa Laurato Sertié

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, […]