Poikiloderma with Neutropenia (PN, Clericuzio-type Poikiloderma with Neutropenia). The most frequent recurrent mutations, c.531delA, c.496delA and c.179delC, reflect three geographical clusters.
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP; hereditary sclerosing poikiloderma with tendon, muscle and pulmonary involvement). All the ...
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