Arthrogryposis Distal Type 2B, also known as Freeman-Sheldon syndrome, is a rare genetic disorder that primarily affects muscle and bone development. It is characterized by joint deformities, primarily in the hands and feet, which are present from birth. The MYH3 gene has been closely linked to this condition, and understanding its symptoms is crucial for […]
Arthrogryposis Distal Type 2B (ADT2B), a rare genetic condition, is characterized by multiple joint contractures found throughout the body at birth. The condition primarily affects the hands and feet, leading to severe mobility and functionality issues. A pivotal role in diagnosing this condition is played by genetic testing, specifically targeting mutations in the TNNI2 gene. […]
Arthrogryposis Distal Type 2B, also known as Sheldon-Hall syndrome, is a rare genetic disorder characterized by multiple joint contractures found throughout the body at birth. These contractures are primarily located in the hands and feet, leading to limited movement and flexibility. The condition is caused by mutations in the TNNT3 gene, which plays a critical […]
Understanding the genetic underpinnings of various conditions is critical for accurate diagnosis and effective treatment. One such condition that has garnered attention in the medical community is Arthrogryposis Distal Type 3, which is linked to mutations in the PIEZO2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the […]
Albinism is a group of genetic disorders characterized by a lack or decrease in melanin production. The SLC24A5 gene plays a crucial role in the regulation of melanin synthesis, and mutations in this gene can lead to a specific form of albinism known as Oculocutaneous Albinism Type 4 (OCA4), which is a nonsyndromic type of […]
Albinism is a group of genetic disorders characterized by a significant reduction in the amount or function of melanin, the pigment responsible for the color of the skin, hair, and eyes. One specific form, Oculocutaneous Albinism Type 1A (OCA1A), is caused by mutations in the TYR gene. This condition affects individuals from birth and presents […]
Albinism is a group of genetic conditions that result in little or no production of the pigment melanin, affecting the color of the skin, hair, and eyes. Among the various types, Oculocutaneous Albinism Type 1B (OCA1B) is specifically caused by mutations in the TYR gene. Understanding the symptoms and genetic basis of this condition is […]
Albinism is a group of genetic conditions characterized by a reduced amount or complete absence of pigment in the skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism Type 2 (OCA2) is one of the most common, particularly affecting individuals of African, African-American, and Native American descent. This condition is caused by […]
Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Oculocutaneous albinism (OCA) is a type of albinism that affects the skin, hair, and eyes, and it has several subtypes. One of the subtypes, Oculocutaneous Type 3, also known as rufous or […]
Albinism is a group of genetic conditions characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Oculocutaneous albinism (OCA) is a form of albinism that affects the skin, hair, and eyes, and among its types, Oculocutaneous Type 4, caused by mutations in the SLC45A2 gene, stands out for […]
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.
