Autosomalt dominant anomali som kännetecknas av onormal äggformig kärna på granulocyterna och deras kromatin. Mutationer i lamin B-receptorgenen som resulterar i reducerade proteinnivåer är kopplade till sjukdomen. Heterozygota individer är friska med normal granulocytfunktion medan homozygota individer ibland skelettabnormiteter, utvecklingsrubbningar och anfall.
Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
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Anomaly, Pelger-Huet — Pelger Huet Anomaly — Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities — Pelger-Huët Anomaly — Anomaly, Pelger-Huët — Pelger Huët Anomaly — Pelger-Huët Nuclear Anomaly — Anomaly, Pelger-Huët Nuclear — Nuclear Anomaly, Pelger-Huët — Pelger Huët Nuclear Anomaly — Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities — Pelger-Huet Nuclear Anomaly — Anomaly, Pelger-Huet Nuclear — Nuclear Anomaly, Pelger-Huet — Pelger Huet Nuclear Anomaly — Pseudo Pelger-Huet Anomaly — Anomaly, Pseudo Pelger-Huet — Pelger-Huet Anomaly, Pseudo — Pseudo Pelger Huet Anomaly — Pseudo Pelger-Huët Anomaly — Anomaly, Pseudo Pelger-Huët — Pelger-Huët Anomaly, Pseudo — Pseudo Pelger Huët Anomaly — Pseudo Pelger-Huet Nuclear Anomaly — Pseudo Pelger Huet Nuclear Anomaly