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An alternating current (AC)‐promoted, Pd‐catalyzed ortho‐aryl C─H alkynylation of 2,3‐diaryl acrylaldehydes is described. This synthetic scheme accommodates a broad substrate scope, delivering alkynylated stilbene derivatives with excellent arene site selectivity.
Junya Wang +7 more
wiley +1 more source
Expanding the Phenotypic Spectrum of PRKD1 Gain-of-Function Syndrome: Congenital Heart Disease, Bilateral Carotid Dissections, and Ectodermal Dysplasia in an Adult Patient. [PDF]
Kharaziha P +3 more
europepmc +1 more source
A rare case report of vascular Ehlers-Danlos syndrome as a pulsatile neck mass with an internal carotid artery aneurysm. [PDF]
Rahman MF +6 more
europepmc +1 more source
Epidermolysis bullosa accompanied by long-segment gastric outlet obstruction in a newborn: a report of a rare case. [PDF]
Al Quran TM +5 more
europepmc +1 more source
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The Genetics of Skin Fragility
Annual Review of Genomics and Human Genetics, 2014Genetic skin fragility manifests with diminished resistance of the skin and mucous membranes to external mechanical forces and with skin blistering, erosions, and painful wounds as clinical features. Skin fragility disorders, collectively called epidermolysis bullosa, are caused by mutations in 18 distinct genes that encode proteins involved in ...
Cristina Has, Leena Bruckner-Tuderman
exaly +4 more sources
Molecular and diagnostic aspects of genetic skin fragility
Journal of Dermatological Science, 2006Genetic syndromes with skin fragility represent a heterogeneous group of very rare disorders caused by mutations in genes encoding proteins or protein subunits important for the mechanical resistance of keratinocytes and for cell-cell or cell-extracellular matrix adhesion.
Cristina Has, Leena Bruckner-Tuderman
exaly +4 more sources
Diagnosis and Treatment of Skin Manifestations of Capillary Fragility
New England Journal of Medicine, 1946THIS subject is discussed under the following headings: vascular anatomy of the skin, with special reference to the site of capillary reactions; the methods of testing capillary fragility; the mech...
Alfred L Copley +2 more
exaly +3 more sources

