Article
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.
PLoS genetics - 1 Mar 2016
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
Abstract excerpt
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_1677delAAinsG;(p.Gln559ArgfsTer2), and the second, c.2586+1G>A; p.Thr839_Lys862del resulting in an in frame skip of exon 6...
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