Horne, G.A. and Chevassut, T. (2012) Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. BMJ Case Reports, 2012(oct31), bcr2012007. (doi: 10.1136/bcr-2012-007305) (PMID:23125299) (PMCID:PMC4543924)
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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: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Horne, Dr Gillian |
| Authors: | Horne, G.A., and Chevassut, T. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Cancer Sciences |
| Journal Name: | BMJ Case Reports |
| Publisher: | BMJ Publishing Group |
| ISSN: | 1757-790X |
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