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Case Reports
. 2012 Nov 1:2012:bcr2012007305.
doi: 10.1136/bcr-2012-007305.

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

Gillian A Horne  1 , Timothy Chevassut
Affiliations
Case Reports

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

Gillian A Horne et al. BMJ Case Rep. .

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.

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Figures

Figure 1
Figure 1
Blood result trends during pregnancy and delivery.
See this image and copyright information in PMC

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References

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