Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report. [PDF]
Eur Heart J Case Rep, 2023 Used-Gavín A +4 more
europepmc +1 more source
Perinnöllisen gelsoliiniamyloidoosin proteiiniekspression poikkeavuudet ja amyloidin muodostuksen estäminen [PDF]
, 2010 Suomalaisen perinnöllisen gelsoliiniamyloidoosin syntymekanismit ovat vielä epäselviä. Tässä tutkimuksessa pyrittiin selvittämään, mitkä muut syyt voisivat johtaa gelsoliiniamyloidoosissa ilmenevien oireiden syntyyn amyloidisäikeiden muodostumisen ...
Kyyrönen, Marika
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Spontaneous coronary artery dissection in cutis laxa. [PDF]
BJR Case Rep, 2022 Charters PFP +3 more
europepmc +1 more source
How I explore...a disorder with an apparently healthy microscopic aspect of the skin. [PDF]
, 2005 peer reviewedSome dermatologic disorders named "Invisible dermatoses" are defined by obvious clinical signs while histologic alterations remain discrete.
Pierard, Gérald, Quatresooz, Pascale
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Dermatolysis (Cutis Laxa) [PDF]
Proceedings of the Royal Society of Medicine, 1943 openaire +2 more sources
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. [PDF]
Am J Hum Genet, 2021 Pottie L +28 more
europepmc +2 more sources
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature. [PDF]
Mol Syndromol, 2023 Tekmenuray-Unal A, Durmaz CD.
europepmc +1 more source
[Sweet syndrome of childhood with acquired cutis laxa (Marshall syndrome) as primary manifestation of Takayasu arteritis]. [PDF]
Dermatologie (Heidelb), 2022 Michl C, Hühn R, Sunderkötter C.
europepmc +1 more source
Successful surgical intervention for giant thoracic aortic aneurysm in cutis laxa aortopathy. [PDF]
JTCVS Tech, 2022 Krishnan Nair JT +3 more
europepmc +1 more source