Amelogenesis Imperfecta (AI) is a heterogeneous group of genetic disorders affecting the enamel of teeth, leading to a variety of dental abnormalities. Among the various types of AI, Type 3, associated with mutations in the FAM83H gene, is particularly noteworthy due to its distinct clinical manifestations and inheritance patterns. Recognizing the symptoms of FAM83H Gene […]
Amelogenesis Imperfecta (AI) is a congenital disorder that affects the enamel of the teeth, leading to dental problems that can range from mild to severe. One specific type of this condition, Type 4, has been linked to mutations in the DLX3 gene. Understanding the symptoms of DLX3 Gene Amelogenesis Imperfecta Type 4 is crucial for […]
Understanding the symptoms of AMTN gene amelotin deficiency is crucial for individuals who might be at risk. The AMTN gene plays a significant role in dental health, specifically in the formation and maintenance of enamel, which is the outermost layer of teeth. A deficiency in the amelotin protein, due to mutations in the AMTN gene, […]
Understanding OSMR Gene Amyloidosis Primary Localized Cutaneous Type 1 Amyloidosis is a rare and complex condition that involves the deposition of amyloid, an abnormal protein, in various tissues and organs throughout the body. One specific type, known as OSMR Gene Amyloidosis Primary Localized Cutaneous Type 1, affects the skin primarily and is genetically inherited. This […]
Amyloidosis is a complex condition that involves the deposition of amyloid, an abnormal protein, in various tissues and organs throughout the body. Among its various types, Primary Localized Cutaneous Amyloidosis (PLCA) stands out due to its specific impact on the skin. Within this category, a particular interest has been directed towards understanding the genetic underpinnings […]
Arthrogryposis Distal Type 1A is a rare genetic disorder that affects the development and flexibility of joints, leading to limited movement and, in many cases, congenital contractures. This condition is specifically associated with mutations in the TPM2 gene, which plays a crucial role in muscle contraction and development. Understanding the symptoms of this disorder is […]
Arthrogryposis Distal Type 1B, a rare genetic disorder, has been a focus of extensive research in the field of medical genetics. This condition, characterized by congenital joint contractures in two or more areas of the body, is caused by mutations in the MYBPC1 gene. Understanding the symptoms and undergoing timely genetic testing can be crucial […]
Arthrogryposis Distal Type 2A, a rare genetic disorder, has been a subject of extensive research and discussion within the medical community. This condition, primarily affecting the development and flexibility of the joints, has been closely associated with mutations in the MYH3 gene. Understanding the symptoms and genetic underpinnings of this disorder is crucial for early […]
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. […]
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