Results 131 to 140 of about 2,841 (190)

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. [PDF]

Mol Genet Genomic Med, 2021
Cinquina V, Ciaccio C, Venturini M, Masson R, Ritelli M, Colombi M.   +5 more
europepmc   +1 more source

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

, 2019
Е. Г. Окунева, Anastasiya Aleksandrovna Kozina, Н. В. Барышникова, Anna Krasnenko, Kirill Tsukanov, Olesya I. Klimchuk, Ekaterina Ivanovna Surkova, Valery Ilinsky   +7 more
openalex   +1 more source

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. [PDF]

Am J Hum Genet, 2020
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.   +40 more
europepmc   +1 more source

Penicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report. [PDF]

Mediterr J Rheumatol
Routsi E, Kanelleas A, Papaefthymiou V, Pappa G, Katoulis A.   +4 more
europepmc   +1 more source

Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC. [PDF]

Pediatr Allergy Immunol Pulmonol, 2020
Mutlu-Albayrak H, Emiralioğlu N, Damar Ç.   +2 more
europepmc   +1 more source

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. [PDF]

Br J Dermatol, 2021
Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q.   +9 more
europepmc   +1 more source

The dominant and recessive forms of cutis laxa. [PDF]

, 1972
Peter Beighton
openalex   +1 more source

Cutis hyperelastica (Ehlers-Danlos) and cutis laxa

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

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

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