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Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence
journal contribution
posted on 2023-06-08, 13:39 authored by Gillian A Horne, Timothy ChevassutTimothy ChevassutShwachman-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
History
Publication status
- Published
Journal
BMJ Case ReportsISSN
1757-790XExternal DOI
Volume
2012Department affiliated with
- Clinical and Experimental Medicine Publications
Research groups affiliated with
- Haematology Research Group Publications
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- No
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- Yes
Legacy Posted Date
2012-11-14Usage metrics
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