Results 31 to 40 of about 6,036 (217)
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 +3 more
doaj +1 more source
Acquired localized cutis laxa: A case report and the role of plastic surgery
Indian Journal of Dermatology, 2019 Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement.
Guru Prasad Reddy +2 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 +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 +5 more
core +3 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 +4 more
core +3 more sources
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 +4 more
core +2 more sources
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 +3 more
doaj +1 more source
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 +2 more
doaj +1 more source
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]
, 2010 Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N +9 more
core +2 more sources