" /> Poikiloderma with neutropenia - CISMeF





Preferred Label : Poikiloderma with neutropenia;

Symbol : PN;

CISMeF acronym : PN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Poikiloderma with neutropenia, clericuzio-type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 16 open reading frame 57 gene (C16ORF57, 613276.0001);

Laboratory abnormalities : Neutropenia;

Prefixed ID : #604173;

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27/07/2025


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