Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA) is a rare genetic disorder that presents a considerable challenge to affected individuals and their families. This condition, resulting from mutations in the ITGB4 gene, manifests through a combination of skin blistering and gastrointestinal issues from birth. Understanding the symptoms and the availability of genetic testing can provide […]
Epidermolysis bullosa simplex (EBS) is a genetic condition that affects the skin, causing it to be very fragile and to blister easily. This condition is primarily caused by mutations in the KRT5 gene, which plays a crucial role in the production of keratin, a protein that provides strength and resilience to the skin. Understanding the […]
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a rare genetic disorder characterized by fragile skin that easily blisters and pyloric atresia, which is a blockage of the stomach to the intestines. This condition is caused by mutations in the PLEC gene, which plays a crucial role in the integrity and function of skin cells […]
Epidermolysis bullosa simplex (EBS) is a group of rare genetic conditions characterized by fragile skin that easily blisters and tears from minor friction or trauma. Specifically, the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 is a severe form of the disease caused by mutations in the KRT14 gene. This condition is inherited in […]
Dyssegmental Dysplasia, Silverman-Handmaker type, is a rare genetic disorder that significantly impacts the development of bone and cartilage. This condition is caused by mutations in the HSPG2 gene, which plays a crucial role in the structural integrity and function of the extracellular matrix. Understanding the symptoms associated with this disorder is essential for early diagnosis […]
Ehlers-Danlos Syndrome (EDS) represents a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, bones, blood vessels, and other tissues. Among the various types of EDS, Type 7A, also known as Arthrochalasia EDS (aEDS), is caused by mutations in the COL1A1 gene. This specific […]
Ectodermal dysplasias are a diverse group of genetic disorders affecting the development or function of the teeth, hair, nails, and sweat glands. Among these, the KRT85 gene ectodermal dysplasia type 4, also known as hair-nail type ectodermal dysplasia, is a rare condition that primarily affects the growth and quality of hair and nails. Understanding the […]
Ehlers-Danlos Syndrome (EDS) represents a group of genetic disorders that primarily affect the skin, joints, and blood vessels. Among the various types of EDS, Type 7B, caused by mutations in the COL1A2 gene, is of significant interest due to its rarity and unique clinical manifestations. DNA Labs UAE is at the forefront of providing a […]
Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) are rare, inherited conditions caused by mutations in the CDH3 gene. This complex syndrome is characterized by a unique combination of symptoms affecting the skin, limbs, and eyes. Recognizing the signs and understanding the genetic basis of these conditions is crucial for early diagnosis and management. DNA Labs […]
Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect the connective tissues, primarily the skin, joints, and blood vessel walls. Among its various types, the Ehlers-Danlos Syndrome Type 7C, also known as the Dermatosparaxis type, is caused by mutations in the ADAMTS2 gene. This rare type of EDS is characterized by extremely fragile […]
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.
