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 […]
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 […]
Ectodermal Dysplasia Hypohidrotic (ED) is a rare genetic condition that affects the development of the ectodermal structures, including the skin, hair, teeth, and sweat glands. The EDARADD gene plays a crucial role in the development of these ectodermal structures. Mutations in the EDARADD gene can lead to Hypohidrotic Ectodermal Dysplasia (HED), a form of the […]
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such rare genetic disorder is the IKBKG gene ectodermal dysplasia hypohidrotic with immune deficiency. This condition, as daunting as it sounds, can have a significant impact on the quality of life of those affected. In this article, we will delve into […]
Ectodermal Dysplasia Hypohidrotic (EDH) is a rare genetic condition primarily affecting the development of the skin, hair, teeth, and sweat glands. The condition is often inherited in an X-linked pattern, meaning the gene causing the condition, known as the EDA gene, is located on the X chromosome. Given its genetic basis, testing for this condition […]
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive array of services to identify various genetic conditions, including the PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome. This condition, caused by mutations in the PKP1 gene, presents a unique set of challenges and symptoms for those affected. Understanding these symptoms and […]
Symptoms of COL5A1 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect connective tissues, primarily skin, joints, and blood vessel walls. Type 12 EDS, also known as vascular-like EDS, is linked to mutations in the COL5A1 gene. This particular form of EDS is characterized by a […]
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.
