Epidermolysis bullosa simplex (EBS) is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Among its various types, the Dowling-Meara type, also known as EBS Dowling-Meara, is considered one of the more severe forms. This condition is primarily caused by mutations in the KRT14 gene, which provides […]
Epidermolysis bullosa simplex (EBS) Koebner type is a genetic condition characterized by the fragility of the skin that results in blistering and erosions from minor mechanical trauma. This condition is specifically associated with mutations in the KRT14 gene, which encodes for keratin 14, a protein essential for the structural integrity of the skin. Understanding the […]
Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, joints, and blood vessels. Among the various types of EDS, one rare form is associated with mutations in the FKBP14 gene. This specific subtype is characterized by progressive kyphoscoliosis, myopathy, […]
Epidermolysis bullosa simplex (EBS) is a group of genetic skin disorders that cause the skin to become very fragile and to blister easily. Among its subtypes, the Ogna type, caused by mutations in the PLEC gene, is a particularly rare form. Understanding the symptoms and undergoing genetic testing can be crucial for individuals who suspect […]
— Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Among its various types, the Musculocontractural Type 1, caused by mutations in the CHST14 gene, stands out due to its distinctive clinical manifestations. Understanding the symptoms associated with this […]
Epidermolysis Bullosa Simplex (EBS) is a group of genetic conditions that cause the skin to be very fragile and to blister easily. The Weber-Cockayne type, which is one of the milder forms of EBS, primarily affects the hands and feet and usually becomes apparent with mild blistering during infancy or early childhood. This condition is […]
Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders, characterized by a wide range of symptoms and physical signs. Among its various types, the Musculocontractural Type 2 (MCEDS) is a rare form that is caused by mutations in the DSE gene. Understanding the symptoms of this condition is crucial for early diagnosis and […]
Epidermolysis Bullosa (EB) is a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes. Among its various types, the Generalized Atrophic Benign Epidermolysis Bullosa (GABEB), which is associated with mutations in the LAMA3 gene, presents a set of distinct symptoms and challenges. DNA Labs UAE offers a comprehensive […]
Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders, characterized by a wide range of symptoms including hypermobile joints, skin that stretches further than normal, and a tendency to bruise easily. Among its various types, the Progeroid Type 1, associated with the B4GALT7 gene, stands out due to its unique clinical features. Understanding […]
Symptoms of COL17A1 Gene Epidermolysis Bullosa Junctional Genetic Test Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The condition can vary from mild to severe, and it usually manifests at birth or in early childhood. Among the various types of EB, Junctional Epidermolysis Bullosa (JEB) is a result of […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
