Epidermolysis bullosa dystrophica

Results 41 to 50 of about 1,088 (130)

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard +17 more
wiley +1 more source

Epidermolysis Bullosa Dystrophica [PDF]

Proceedings of the Royal Society of Medicine, 1975
T J Ryan, M J O Francis, W B Reed
openaire +3 more sources

Inherited epidermolysis bullosa: clinical and therapeutic aspects Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

Anais Brasileiros de Dermatologia, 2013
Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction ...
Vanessa Lys Simas Yamakawa Boeira +6 more
doaj

A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis