Poikiloderma with Neutropenia (PN)

Alias:

Poikiloderma with Neutropenia, Clericuzio Type

Clericuzio-Type Poikiloderma Neutropenia Syndrome

Poikiloderma with Neutropenia, Clericuzio-Type

Clericuzio-Type Poikiloderma with Neutropenia

Clericuzio Type Poikiloderma with Neutropenia

Poikiloderma with Neutropenia Clericuzio-Type

Poikiloderma, with Neutropenia

Immune-Deficient Poikiloderma

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Poikiloderma with Neutropenia, also known as pn, is related to neutropenia and rothmund-thomson syndrome, type 2. An important gene associated with Poikiloderma with Neutropenia is USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1). Affiliated tissues include skin and bone marrow, and related phenotypes are carious teeth and palmoplantar keratoderma

Related ID：

MALACARDS：PKL001

OMIM：604173

MESH：C565820