Fabrizia Restaldi Viola Alesi Angela Aquilani Silvia Genovese Serena Russo Valentina Coletti Daniele Pompili Roberto Falasca Bruno Dallapiccola Rossella Capolino Matteo Luciani Antonio Novelli
10.1186/s13039-019-0440-6
Mol Cytogenet
2019 Jun 14;12:26.
1p221p213 duplication 8q213q221 deletion complex chromosomal rearrangements runx1t1
CC BY
https://pubmed.ncbi.nlm.nih.gov/31223340/
Case Reports
PMC6570965
31223340
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
2019