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

Alias:

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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Medical Symptom

Gene & Mutation

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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

Related ID：

MALACARDS：NTR050

OMIM：612541

MESH：D009503