Laura Pranckėnienė Eglė Preikšaitienė Lucie Gueneau Alexandre Reymond Vaidutis Kučinskas
10.1177/1178631019839010
Genomics Insights
2019 Apr 2;12:1178631019839010.
charge syndrome chd7 intellectual disability wes de novo variant
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/31043788/
Case Reports
PMC6446253
31043788
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome
2019