Genetically unresolved case of rauch-steindl syndrome diagnosed by its wolf-hirschhorn associated dna methylation episignature

HIGHLIGHTS

• who: December and collaborators from the University Hospital Essen, Germany have published the Article: Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature, in the Journal: (JOURNAL)
• what: This study compared the methylation profile of patients with large or small deletions and established an episignature for patients with large deletions (Schenkel et_al, 2021).
• future: These changes may influence gene_expression and ultimately development however further studies including DNA expression assessment are required.

SUMMARY

Were detected by singleton exome sequencing. Wolf-Hirschhorn syndrome (WHS . . .

 



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