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A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A

The genetics of many congenital heart diseases (CHDs) can only unsatisfactorily be explained by known chromosomal or Mendelian syndromes. Here, we present sequencing data of a family with a potentially multigenic origin of CHD. Twelve of nineteen family members carry a familial mutation [NM_004329.2...

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Detalles Bibliográficos
Autores principales: Demal, Till Joscha, Heise, Melina, Reiz, Benedikt, Dogra, Deepika, Brænne, Ingrid, Reichenspurner, Hermann, Männer, Jörg, Aherrahrou, Zouhair, Schunkert, Heribert, Erdmann, Jeanette, Abdelilah-Seyfried, Salim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393482/
https://www.ncbi.nlm.nih.gov/pubmed/30814609
http://dx.doi.org/10.1038/s41598-019-39648-7