{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:41:06Z","timestamp":1791222066376,"version":"4.1.0"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2012-007305","type":"journal-article","created":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T11:01:26Z","timestamp":1351767686000},"page":"bcr2012007305","source":"Crossref","is-referenced-by-count":5,"title":["Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence"],"prefix":"10.1136","volume":"2012","author":[{"given":"Gillian A","family":"Horne","sequence":"first","affiliation":[{"name":"Medical Research Building, Brighton and Sussex Medical School, Falmer, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Chevassut","sequence":"additional","affiliation":[{"name":"Department of Haematology, Brighton and Sussex University Hospital, Brighton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,11,1]]},"reference":[{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80150-5"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.2","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1651-2227.1964.tb07237.x","article-title":"Congenital hypoplasia of the exocrine pancreas","volume":"53","author":"Bodian","year":"1964","journal-title":"Acta Paediatr"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70332-X"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.4","doi-asserted-by":"publisher","DOI":"10.1086\/319505"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.5","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20478"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M414656200"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.8","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01668.x"},{"key":"2025082803091993000_2012.oct31_1.bcr2012007305.9","unstructured":"Alter BP Young NS . The bone marrow failure syndromes. In: Nathan DG Orkin SH , eds. Nathan and oski's hematology of infancy and childhood. Philadelphia, PA: WB Saunders, 1998: 276\u20138."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:09:28Z","timestamp":1756375768000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,1]]},"references-count":9,"alternative-id":["10.1136\/bcr-2012-007305"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007305","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,1]]}}}