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Poikiloderma with Neutropenia MeSH Supplementary Concept Data 2024


MeSH Supplementary
Poikiloderma with Neutropenia
Unique ID
C565820
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565820
Entry Term(s)
Poikiloderma with Neutropenia, Clericuzio-Type
Registry Number
0
Heading Mapped to
*Neutropenia
*Skin Abnormalities
Frequency
33
Note
A disorder characterized by abnormal skin pigmentation regions (poikiloderma), PALMOPLANTAR KERATODERMA; and recurrent infections due to neutropenia. It is associated with mutations in the C16orf57 (USB1) gene. OMIM: 604173
Date of Entry
2012/11/05
Revision Date
2016/09/29
Poikiloderma with Neutropenia Preferred
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