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.
See also reference (FX) in Slovak
lamín typu B
See also reference (FX) in English
Lamin Type B
Links
(1) - MeSH descriptor
predmetové heslo
Počet záznamov: 1
openseadragon
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