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.
推出的年份:
副标题
树号: C15.378.553.696, C16.320.784
MeSH 单一 ID: D010381
进入的组:
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
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