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 […]
Epidermolysis bullosa simplex (EBS) represents a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes in response to minor injury or friction. Among the various types of EBS, the autosomal recessive type 2, linked with mutations in the DST gene, stands out due to its unique genetic inheritance […]
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 […]
Ectodermal dysplasias are a group of genetic disorders that involve defects in the development of ectodermal structures, including the skin, hair, nails, teeth, and sweat glands. One specific type, Hidrotic Ectodermal Dysplasia (HED), also known as Clouston Syndrome, is primarily caused by mutations in the GJB6 gene. This condition is characterized by a distinct set […]
Symptoms of EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Genetic Test Ectodermal Dysplasia Hypohidrotic (ED) is a genetic disorder affecting the development of the ectoderm, the outermost layer of the developing embryo. This layer contributes to the formation of many structures, including the skin, hair, nails, teeth, and sweat glands. One of the genes associated […]
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.
