Results 151 to 160 of about 2,309 (169)

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology

Clinical Genetics, 2021
Aude Beyens, Annekatrien Boel, Sofie Symoens   +2 more
exaly  

X-Linked Cutis Laxa

New England Journal of Medicine, 1980
Peter H Byers, Judith G Hall
exaly  

Cutis laxa: A review

Journal of the American Academy of Dermatology, 2012
Zsolt Urban
exaly  

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Nature Genetics, 2007
Uwe Kornak, Jeroen van Reeuwijk, FRANCOIS FOULQUIER   +2 more
exaly  

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

International Journal of Molecular Sciences, 2017
Ariana Kariminejad, Alireza Ghanadan, Susan Akbaroghli   +2 more
exaly  

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

Human Mutation, 2013
Bert Callewaert, Chi-Ting Su, Tim Van Damme   +2 more
exaly  

Mutations in PYCR1 cause cutis laxa with progeroid features

Nature Genetics, 2009
Bruno Reversade, Nathalie Escande-Beillard, Serene C Chng   +2 more
exaly  

Autosomal recessive cutis laxa syndrome revisited

European Journal of Human Genetics, 2009
Eva Morava, Dirk J Lefeber, Ron A Wevers
exaly  

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

American Journal of Human Genetics, 2017
Tim Van Damme, Miski Mohamed, Sergio Guerrero-Castillo   +2 more
exaly