@article{articlea3a3a34c,
title   = {A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation},
author = {Gutierrez-Rodrigues, Fernanda and Masri, Nohad and Chouery, Eliane and Diamond, Carrie and Jalkh, Nadine and Vicente, Alana and Kajigaya, Sachiko and Abillama, Fayez and Bejjani, Noha and Serhal, Wassim and Calado, Rodrigo Tocantins and Young, Neal S. and Farhat, Hussein and Coussa, Marie Louise},
year = {2019},
doi = {10.1007/s00439-019-02076-8},
journal   = {Human Genetics}
}