Results 171 to 180 of about 5,571 (225)

Cutis hyperelastica (Ehlers-Danlos) and cutis laxa

British Journal of Plastic Surgery, 1963
openaire   +3 more sources

Acquired Cutis Laxa Type 2 (Marshall's Syndrome) Associated with Sweet's Syndrome: A Rare Entity.

Indian J Dermatol
Samal A, Bhoi A, Mohanty J, Mishra C, Basa A, Dash S.   +5 more
europepmc   +1 more source

The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. [PDF]

Int J Mol Sci
Chu A, Yao Y, Glibowicka M, Deber CM, Manolson MF.   +4 more
europepmc   +1 more source

Cutis laxa associated to cardiac failure [PDF]

, 1999
Maria F. C. Siqueira, Paula A. Ministério, Eugênia Ribeiro Valadares, Saulo Purisch, Eduardo Alves Bambirra, Victor Cavalcanti Pardini   +5 more
openalex   +1 more source

A novel intronic variant of ATP6V0A2-related cutis laxa with impaired cognitive function [PDF]

Shanshan Xue, Wujuan Shi
openalex   +1 more source

Cutis Laxa [PDF]

Proceedings of the Royal Society of Medicine, 1948
openaire   +1 more source

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa. [PDF]

J Inherit Metab Dis, 2020
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA.   +20 more
europepmc   +1 more source

Generalized acquired cutis laxa and monoclonal gammopathy of undetermined significance : a case report

, 2013
B. Lerondeau
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, Ho Namkoong, Shotaro Chubachi, Hiromu Tanaka, Takanori Asakura, Mizuha Hashiguchi, Mamiko Yamada, Hisato Suzuki, Naoya Tanabe, Yoshitake Yamada, Takeshi Ouchi, Atsutoshi Tsuji, Naoki Hasegawa, Kenjiro Kosaki, Koichi Fukunaga, Tomoko Uehara   +15 more
openalex   +1 more source

Clinical spectrum and long-term follow-up of 14 cases with mutations from the French severe congenital neutropenia registry [PDF]

core   +1 more source