Results 111 to 120 of about 3,923 (158)
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2 [PDF]
, 2018 Pascaline Létard +11 more
openalex +1 more source
Indian Journal of Dermatology, 1999 A case of acquired cutis laxa in a male is reported. The skin became loose and started hanging in folds after the patient received therapy for piles. Relevant literature is reviewed.
Jaswal Ritu, Kanwar A.J
doaj
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
core
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa [PDF]
, 2017 Tim Van Damme +40 more
openalex +1 more source
Autosomal Dominant Cutis Laxa with Severe Lung Disease: Synthesis and Matrix Deposition of Mutant Tropoelastin [PDF]
, 2005 Zsolt Urbán +3 more
openalex +1 more source
Autosomal‐dominant cutis laxa resulting from an intronic mutation in
, 2015 Dan Vodo +5 more
openalex +1 more source
The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene [PDF]
Masanori Kaji +15 more
openalex +1 more source
Cutis laxapresenting as recurrent ileus [PDF]
, 2014 Shishira Bharadwaj +3 more
openalex +1 more source