Shwachman-diamond Syndrome
What's New
Last Posted: Apr 18, 2024
- Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Lital Yeshareem, et al. European journal of haematology 2024 0 - Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Heerah Lee, et al. Annals of laboratory medicine 2023 0 (6) 638-641 - Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16 - Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Alter Blanche P, et al. Haematologica 2017 0 (1) 30-39 - Somatic mutations and clonal hematopoiesis in congenital neutropenia.
Xia Jun, et al. Blood 2017 0 (4) 408-416 - Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Laura Peretto et al. International journal of molecular sciences 2023 24(4) - Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?
Koh Ai Ling, et al. American journal of medical genetics. Part A 2021 0 (1) 384 - [Predisposition and progression of myelodysplastic syndromes].
Makishima Hideki, et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 0 (4) 278-288 - Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.
Peng Xiaomin, et al. The Journal of molecular diagnostics : JMD 2022 0 (12) 1240-1253 - Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani Elissa, et al. Blood advances 2021 11
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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