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Symptoms and Testing information for PAX6 Gene Aniridia Genetic Test

Symptoms and Testing information for PAX6 Gene Aniridia Genetic Test

Symptoms of PAX6 Gene Aniridia Genetic Test Aniridia is a rare genetic disorder characterized by the underdevelopment of the iris in the eye, which is the colored part surrounding the pupil. This condition is primarily associated with mutations in the PAX6 gene, a critical factor in eye development during the embryonic stage. Recognizing the symptoms […]

Symptoms and Testing information for C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test

Symptoms and Testing information for C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test

Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among its various types, Oculocutaneous Albinism Type 5 (OCA5), associated with mutations in the C10ORF11 gene, is relatively less understood due to its recent discovery. Recognizing the symptoms associated with this genetic […]

Symptoms and Testing information for OCA2 Gene Albinism Oculocutaneous Type 2 Genetic Test

Symptoms and Testing information for OCA2 Gene Albinism Oculocutaneous Type 2 Genetic Test

Symptoms of OCA2 Gene Albinism Oculocutaneous Type 2 Oculocutaneous albinism type 2 (OCA2), caused by mutations in the OCA2 gene, is a genetic condition characterized by reduced pigmentation in the hair, skin, and eyes. This form of albinism, while affecting melanin production, varies significantly in terms of its presentation among individuals, with symptoms ranging from […]

Symptoms and Testing information for TYR Gene Albinism Oculocutaneous Type 1B Genetic Test

Symptoms and Testing information for TYR Gene Albinism Oculocutaneous Type 1B Genetic Test

Albinism is a group of genetic disorders characterized by 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. This type of albinism not only affects the pigmentation but also […]

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