{"doi":"10.1002/ccr3.931","title":"Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman‐Diamond syndrome or new condition?","abstract":"<jats:title>Key Clinical Message</jats:title>\n                  <jats:p>This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever‐expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman‐Diamond syndrome (SDS) or a new condition which resembles SDS.</jats:p>","journal":"Clinical Case Reports","year":2017,"id":656154,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":495323,"name":"Eric T. 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A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman‐Diamond syndrome (SDS) or a new condition which resembles SDS.</jats:p>","is_dataset_classified":null,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28588803","pmcid":"PMC5457995","openalex_id":"https://openalex.org/W2604966629","authors":[],"funders":[],"total_grants":0,"fwci":0.4015,"citation_percentile":0.68513817,"influential_citations":0,"citation_trend":[{"year":2018,"count":2},{"year":2023,"count":2},{"year":2024,"count":2}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.931","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.931","host_type":"publisher"},{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fccr3.931","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.931","host_type":"publisher"},{"url":"https://doi.org/10.1002/ccr3.931","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28588803","host_type":"repository"},{"url":"http://europepmc.org/articles/PMC5457995","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5457995","host_type":"repository"},{"url":"https://doaj.org/article/d0a50e82b3a84484929be9a389946974","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC5457995","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC5457995?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Blood disorders and treatments","Immunodeficiency and Autoimmune Disorders","Pneumocystis jirovecii pneumonia detection and treatment"],"mesh_terms":[],"keywords":["Medicine","Exocrine pancreatic insufficiency","Exome sequencing","Bone marrow failure","Bone marrow","Presentation (obstetrics)","Etiology","Pediatrics","Pathology","Internal medicine","Pancreas","Surgery","Mutation","Genetics","Stem cell","Gene","Haematopoiesis","Anemia","Thrombocytopenia","Native American","Diamond‐blackfan","Shwachman‐diamond"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-11T19:58:53.599372Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}