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

by 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
Published 2016-03-01

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

by Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo
Published 2012-01-01