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BMJ Case Rep. 2012 Nov 1;2012. pii: bcr2012007305. doi: 10.1136/bcr-2012-007305.

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

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  • 1Brighton and Sussex Medical School, Falmer, UK. gillianhorne@doctors.org.uk


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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