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

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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Main Authors: Philip J Byrd, Grant S Stewart, Anna Smith, Charlotte Eaton, Alexander J Taylor, Chloe Guy, Ieva Eringyte, Peggy Fooks, James I Last, Robert Horsley, Antony W Oliver, Dragana Janic, Lidija Dokmanovic, Tatjana Stankovic, A Malcolm R Taylor
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-03-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1005945
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https://doi.org/10.1371/journal.pgen.1005945

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