Symptoms and Testing information for FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test

Symptoms and Testing information for FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test

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, […]

Symptoms and Testing information for CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test

Symptoms and Testing information for CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test

— Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Among its various types, the Musculocontractural Type 1, caused by mutations in the CHST14 gene, stands out due to its distinctive clinical manifestations. Understanding the symptoms associated with this […]

Symptoms and Testing information for B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test

Symptoms and Testing information for B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test

Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders, characterized by a wide range of symptoms including hypermobile joints, skin that stretches further than normal, and a tendency to bruise easily. Among its various types, the Progeroid Type 1, associated with the B4GALT7 gene, stands out due to its unique clinical features. Understanding […]

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