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A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

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A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

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Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.