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Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these diso…
Diamond Blackfan AnemiaDyskeratosis CongenitaFanconi Anemia+2 more
National Cancer Institute (NCI)NCT00027274
The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in t…
Shwachman-Diamond SyndromeSDSIBMF+24 more
Shwachman-Diamond Syndrome Alliance IncNCT06999954
Shwachman Diamond Syndrome Registry and Study (SDS Registry)
Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like pat…
Shwachman-Diamond SyndromeShwachman-Diamond Syndrome-Like
Boston Children's HospitalNCT06056908
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+181 more