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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784874/
https://www.ncbi.nlm.nih.gov/pubmed/32737436
http://dx.doi.org/10.1038/s41431-020-0678-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784874/
https://www.ncbi.nlm.nih.gov/pubmed/32737436
http://dx.doi.org/10.1038/s41431-020-0678-9

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