A unique smith-magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed rai1 allele

HIGHLIGHTS

• who: Alessandra Sironi from the (UNIVERSITY) have published the research work: A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele, in the Journal: (JOURNAL) of 11/07/2022
• what: The authors report on a 21-year-old girl with a clinical suspicion of SMS who was found to carry a de novo heterozygous intragenic RAI1 deletion unexpectedly coupled to RAI1 overexpression, which was also present in her mother and brother. The analysis showed in the proband an expression of the transcript which was half that of . . .
  

   

  

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