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簡(jiǎn)要描述:Involvement in disease;Defects in C16orf57 are the cause of poikiloderma with neutropenia (PN). PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplak
產(chǎn)品型號(hào):bs-9631R
廠商性質(zhì):生產(chǎn)廠家
更新時(shí)間:2025-02-26
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