Article
Genetic Analysis of Heterotaxy in a Consanguineous Cohort.
Clinical genetics - 1 Feb 2025
Al-Korashy Maarab, Binomar Hadeel, Al-Mostafa Abeer, Al-Mogarri Ibrahim, Al-Oufi Saud, Al-Admawi Mohamed, Al-Jufan Mansour, Echahidi Najmeddine, Mokeem Amal, Alfares Ahmed, Ramzan Khushnooda, Tulbah Sahar, Al-Qahtani Aisha, Takroni Saud, Maddirevula Sateesh, Al-Hassnan Zuhair
Abstract excerpt
Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive. Here, we sought to describe the yield of...
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