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
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From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]
, 2015 Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
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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
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
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
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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
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
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BMC Medical Genomics, 2020 Background Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13.
Qiang Zhang +5 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
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