Article
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
Human genetics - 1 Dec 2019
Gutierrez-Rodrigues Fernanda, Masri Nohad, Chouery Eliane, Diamond Carrie, Jalkh Nadine, Vicente Alana, Kajigaya Sachiko, Abillama Fayez, Bejjani Noha, Serhal Wassim, Calado Rodrigo T, Young Neal S, Farhat Hussein, Coussa Marie Louise
Abstract excerpt
Phenotypic heterogeneity is often observed in patients with telomeropathies caused by pathogenic variants in telomere biology genes. However, the roles of recessive variants in these different phenotypes are not fully characterized. Our goal is to describe the biological roles of a novel homozygous RTEL1 variant identified in a consanguineous Lebanese family with unusual presentation of telomeropathies. A proband...
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