Previously undescribed gross hace1 deletions as a cause of autosomal recessive spastic paraplegia

HIGHLIGHTS

• who: Valeriia A. Kovalskaia and colleagues from the Research Centre for Medical Genetics, Moscow, Russia have published the Article: Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia, in the Journal: Genes 2022, 2186 of 23/Nov/2022
• what: In the gene have not yet been mentioned as cause of Here the authors report clinical case involving 2-year-old male presenting with spasticity mainly affecting the lower limbs and developmental delay.
• how: To confirm one of these suggestions the authors carried out a chromosomal microarray analysis.

 

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