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Article

A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

American journal of medical genetics. Part A - 1 May 2020

Marek-Yagel Dina, Bolkier Yoav, Barel Ortal, Vardi Amir, Mishali David, Katz Uriel, Salem Yishay, Abudi Shachar, Nayshool Omri, Kol Nitzan, Raas-Rothschild Annick, Rechavi Gideon, Anikster Yair, Pode-Shakked Ben

Abstract excerpt

The genetic basis of congenital heart malformations associated with disruption of left-right (L-R) asymmetry is broad and heterogenous, with variants in over 25 genes implicated thus far. Of these, deleterious variants in the Growth/Differentiation Factor 1 (GDF1) gene have been shown to cause heterotaxy with varied complex heart malformations of left-right patterning, in 23 individuals reported to date, either...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32144877
DOI: 10.1002/ajmg.a.61509

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