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
Autosomal recessive cutis laxa Type II: Report of novel mutation in a child
Indian Dermatology Online Journal, 2017 Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities.
Rakesh Kumar +3 more
doaj +1 more source
Living with cutis laxa: an exploratory study [PDF]
, 2020 Rare diseases, while individually uncommon, collectively may impact up to 10% of the population. This makes rare disease a major global public health issue. Most rare diseases have a genetic etiology.
Solanki, Pooja
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Electronic Physician, 2015 Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked.
Mohammadbagher Rahmati +3 more
doaj +1 more source
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis [PDF]
, 2012 Background: Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood.
Coucke, Paul +11 more
core +2 more sources
A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited
Indian Journal of Dermatology, 2016 De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities.
Abhijit Dutta +3 more
doaj +1 more source
Angiitis with Nodule Formation, Vasomotor Instability and Secondary Cutis Laxa11From the University of Southern California School of Medicine, Department of Medicine (Doctor Winsor) and Section of Dermatology (Doctor Obermayer), Los Angeles, California. [PDF]
, 1959 https://nsuworks.nova.edu/nsudigital_harrison/3625/thumbnail ...
Obermayer, Maximilian E., Winsor, Travis
core +1 more source
Sweet's syndrome leading to acquired cutis laxa in a child (Marshall's syndrome): A rare case report
Indian Journal of Paediatric Dermatology, 2016 Sweet's syndrome is very rare in children, fewer than 80 cases are reported in literature. The lesions usually resolve either spontaneously or after treatment without scarring.
H Bangaru +3 more
doaj +1 more source
Cútis laxa: relato de caso Cutis laxa: case report
Anais Brasileiros de Dermatologia, 2010 A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico.
Gisele Moro do Nascimento +4 more
doaj +1 more source
Impact of N‐linked glycans on the dual short fibulin/LTBP‐4 axes regulating elastogenesis
The FEBS Journal, EarlyView.Elastic fiber assembly is orchestrated by multiple glycoproteins. We delineate the molecular basis of two key axes involved in elastic fiber formation—LTBP‐4L/fibulin‐4 and LTBP‐4S/fibulin‐5. We show that N‐linked glycans on these glycoproteins regulate their interactions and conformations, both of which are critical aspects in elastic fiber formation.
Valentin Nelea +8 more
wiley +1 more source