Results 31 to 40 of about 5,906 (226)

Cutis Laxa Type 1 B with Recurrent E57K Variation.

Indian J Dermatol
Singh A, Janani G, Abhinay A, Prasad R.
europepmc   +2 more sources

Cutis Laxa [PDF]

, 2013
Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components.
Mohamed, M., Mohamed, M., Voet, M, Gardeitchik, T., Gardeitchik, T., Gardeitchik, T., Morava, E.   +6 more
openaire   +3 more sources

Endocrinological disorders in children with cutis-laxa syndromes [PDF]

Romanian Journal of Pediatrics, 2022
Cutis laxa syndromes is a rare, multisystem disorder, which primary involves the skin, caused by various mutations in genes that code structural or functional components of the elastic fiber, resulting in heterogenous manifestations.
Mirela Elena Iancu, Alice Ioana Albu, Raluca Maria Vlad, Dragos Nicolae Albu   +3 more
doaj   +1 more source

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 [PDF]

, 2018
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all ...
Callewaert, Hasegawa, Kim, Kuge, Lenz, Loeys, MacFarlane, Majewski, Ohsawa, Renard, Sousa, Tamhankar, Van Damme, Van Maldergem, Van Maldergem, Vanakker, Whyte   +16 more
core   +2 more sources

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]

, 2017
Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J, Chu, Mon-Li, Halabi, Carmen M, Lee, Vivian S, Lin, Michelle, Mecham, Robert P   +5 more
core   +3 more sources

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. [PDF]

, 2013
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5.
Bresson, J.L., Callewaert, B., Coucke, P.J., Davis, E.C., De Almeida, S., De Paepe, A., Gaspar, H., Gosendi, M.E., Heimdal, K., Kornak, U., Lee, J.G., Mac Neal, M., Madan-Khetarpal, S., Malfait, F., Mansour, S., Piérard, G.E., Prescott, K., Salhi, A., Schulz, B., Sciurba, F.C., Su, C.T., Symoens, S., Unger, S., Urban, Z., Van Damme, T., Van Maldergem, L., Vanakker, O., Vlummens, P.   +27 more
core   +1 more source

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm [PDF]

, 2017
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance.
Hucthagowder, Vishwanathan, Jelsig, Anne Marie, Nissen, Henrik, Ousager, Lilian Bomme, Urban, Zsolt   +4 more
core   +2 more sources

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Marshall's syndrome

Indian Journal of Paediatric Dermatology, 2016
Marshall's syndrome is a form of acquired cutis laxa without systemic involvement. It is characterized by acute onset of multiple erythematous papule and plaques that resolve with postinflammatory elastolysis and cutis laxa.
Neha Meena, Prafulla K Sharma, Minakshi Bhardwaj, Sawan Kumar   +3 more
doaj   +1 more source

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

Genetics and Molecular Biology, 2005
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy.
Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +2 more
doaj   +1 more source