Article
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Journal of medical genetics - 1 Jul 2022
Bolkier Yoav, Barel Ortal, Marek-Yagel Dina, Atias-Varon Danit, Kagan Maayan, Vardi Amir, Mishali David, Katz Uriel, Salem Yishay, Tirosh-Wagner Tal, Jacobson Jeffrey M, Raas-Rothschild Annick, Chorin Odelia, Eliyahu Aviva, Sarouf Yarden, Shlomovitz Omer, Veber Alvit, Shalva Nechama, Javasky Elisheva, Ben Moshe Yishay, Staretz-Chacham Orna, Rechavi Gideon, Mane Shrikant, Anikster Yair, Vivante Asaf, Pode-Shakked Ben
Abstract excerpt
BACKGROUND: The molecular basis of heterotaxy and congenital heart malformations associated with disruption of left-right asymmetry is broad and heterogenous, with over 25 genes implicated in its pathogenesis thus far. OBJECTIVE: We sought to elucidate the molecular basis of laterality disorders and associated congenital heart defects in a cohort of 30 unrelated probands of Arab-Muslim descent, using...
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