Bardet-Biedl Syndrome (BBS) is a complex genetic disorder affecting multiple body systems. Among its subtypes, Bardet-Biedl Syndrome Type 7, caused by mutations in the BBS7 gene, is of particular interest due to its unique manifestations and inheritance patterns. Recognizing the symptoms early can lead to a timely diagnosis, which is crucial for managing the condition […]
Bardet-Biedl Syndrome (BBS) is a complex genetic condition affecting multiple organ systems within the body. Among the different types of this syndrome, Bardet-Biedl Syndrome Type 8 is particularly notable for being caused by mutations in the TTC8 gene. This article delves into the symptoms associated with this specific type of BBS and highlights the genetic […]
Bardet-Biedl Syndrome (BBS) is a complex genetic condition that affects many parts of the body. Among the different genes associated with this condition, mutations in the BBS9 gene lead to Bardet-Biedl Syndrome Type 9. This condition is rare and has a wide range of symptoms, making it crucial for individuals to undergo genetic testing for […]
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects multiple body systems. This condition, which presents a wide variety of symptoms, is caused by mutations in at least 14 different genes, one of which is the LZTFL1 gene. Understanding the symptoms and the genetic underpinnings of BBS is crucial for early diagnosis and management […]
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects multiple body systems. It is characterized by symptoms such as vision loss, obesity, kidney dysfunction, extra fingers or toes, and learning difficulties. However, the manifestation of these symptoms can vary significantly among individuals, partly due to modifiers like the CCDC28B gene. Recognizing the importance of […]
Symptoms of SLC12A2 Gene Bartter Syndrome Genetic Test Bartter syndrome is a group of rare inherited disorders that affect the kidneys. Among the various genes associated with this condition, mutations in the SLC12A2 gene have been identified as a cause of a specific subtype of Bartter syndrome. This genetic anomaly disrupts the normal function of […]
Bartter Syndrome is a group of rare inherited disorders that affect the kidneys. The SLC12A3 gene plays a significant role in this condition, and mutations in this gene can lead to what is commonly referred to as Gitelman syndrome, which is a variant of Bartter syndrome. Understanding the symptoms of this genetic condition is crucial […]
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects many parts of the body. Among the numerous genes associated with this condition, mutations in the BBS12 gene lead to Bardet-Biedl Syndrome Type 12. Individuals and families grappling with the symptoms of this condition or with a history of BBS can now turn to DNA […]
Understanding Bartter Syndrome and the Role of the SLC12A5 Gene Bartter Syndrome is a group of rare inherited disorders that affect the kidneys’ ability to reabsorb sodium. This leads to an imbalance of electrolytes, including potassium, chloride, and bicarbonate, in the body. Among the various genes implicated in this condition, the SLC12A5 gene has been […]
Understanding MKS1 Gene Bardet-Biedl Syndrome Type 13 Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects many parts of the body. Among the different types of BBS, Type 13, caused by mutations in the MKS1 gene, is notable for its wide range of symptoms and impacts on health. Recognizing the symptoms early can be […]
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