Rare heterozygous GDF6 variants in patients with renal anomalies

Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patient with renal, i.e., crossed fused renal ectopia,...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Martens, Helge, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor, Bjerre, Anna, Lienkamp, Soeren S., Haffner, Dieter, Weber, Ruthild G.
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784874/
https://ncbi.nlm.nih.gov/pubmed/32737436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0678-9
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