A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development

Patients with biallelic truncating mutations in PALB2 have a severe form of Fanconi anaemia (FA-N), with a predisposition for developing embryonal-type tumours in infancy. Here we describe two unusual patients from a single family, carrying biallelic PALB2 mutations, one truncating, c.1676_1677delAA...

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Detalles Bibliográficos
Autores principales: Byrd, Philip J., Stewart, Grant. S., Smith, Anna, Eaton, Charlotte, Taylor, Alexander J., Guy, Chloe, Eringyte, Ieva, Fooks, Peggy, Last, James I., Horsley, Robert, Oliver, Antony W., Janic, Dragana, Dokmanovic, Lidija, Stankovic, Tatjana, Taylor, A. Malcolm R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798644/
https://www.ncbi.nlm.nih.gov/pubmed/26990772
http://dx.doi.org/10.1371/journal.pgen.1005945

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798644/
https://www.ncbi.nlm.nih.gov/pubmed/26990772
http://dx.doi.org/10.1371/journal.pgen.1005945

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