Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra‐renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one‐day‐old neonate presenting with CA...

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Detalles Bibliográficos
Autores principales: Arts, Peer, Garland, Jessica, Byrne, Alicia B., Hardy, Tristan S.E., Babic, Milena, Feng, Jinghua, Wang, Paul, Ha, Thuong, King‐Smith, Sarah L., Schreiber, Andreas W., Crawford, April, Manton, Nick, Moore, Lynette, Barnett, Christopher P., Scott, Hamish S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217179/
https://www.ncbi.nlm.nih.gov/pubmed/32141698
http://dx.doi.org/10.1002/ajmg.a.61541

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217179/
https://www.ncbi.nlm.nih.gov/pubmed/32141698
http://dx.doi.org/10.1002/ajmg.a.61541

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