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DeCS
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Descriptor English:
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Pelger-Huet Anomaly
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Descriptor Spanish:
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Anomalía de Pelger-Huët
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Descriptor Portuguese:
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Anomalia de Pelger-Huët
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Tree Number:
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C15.378.553.696
C16.320.784
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Definition English:
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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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Indexing Annotation English:
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in titles & translations, use diacritic: Huët
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See Related English:
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Lamin Type B
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Allowable Qualifiers English:
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Record Number:
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10574
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Unique Identifier:
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D010381
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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