Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence

Horne, Gillian A and Chevassut, Timothy (2012) Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. BMJ Case Reports, 2012. ISSN 1757-790X

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Abstract

Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome, characterised by neutropenia, exocrine pancreatic dysfunction and often skeletal abnormalities. To date, and to our knowledge, we report a novel genetic mutation in SDS that, we believe, is associated with minimal consequence, and report the fertility and pregnancy in this individual

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Clinical and Laboratory Investigation
Subjects: R Medicine
R Medicine > RC Internal medicine
Depositing User: Timothy Chevassut
Date Deposited: 14 Nov 2012 15:07
Last Modified: 14 Nov 2012 15:07
URI: http://sro.sussex.ac.uk/id/eprint/42468
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