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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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Official URL: http://dx.doi.org/10.1136/bcr-2012-007305
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 |
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Schools and Departments: | Brighton and Sussex Medical School > Clinical and Experimental Medicine |
Research Centres and Groups: | Haematology Research Group |
Subjects: | R Medicine R Medicine > RC Internal medicine |
Depositing User: | Timothy Chevassut |
Date Deposited: | 14 Nov 2012 15:07 |
Last Modified: | 14 Mar 2019 16:04 |
URI: | http://sro.sussex.ac.uk/id/eprint/42468 |