Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4)

Neutropenia, Severe Congenital, 4, Autosomal Recessive(来自ICD-11)

别称:

Dursun Syndrome

Neutropenia, Severe Congenital 4, Autosomal Recessive

Scn4

Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency

Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect

Neutropenia, Severe Congenital, Type 4, Autosomal Recessive

Neutropenia, Severe Congenital, Autosomal Recessive 4

Durss

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neutropenia, Severe Congenital, 4, Autosomal Recessive, also known as dursun syndrome, is related to severe congenital neutropenia 4 and g6pc3 deficiency. An important gene associated with Neutropenia, Severe Congenital, 4, Autosomal Recessive is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include neutrophil and bone marrow, and related phenotypes are global developmental delay and hydronephrosis

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