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Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Sponsor: Sohag University
Summary
Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can manifest itself at birth or later in life.
Official title: Identification of The Novel Mutations and A Comprehensive Analysis of The Phenotype and Genetic Etiology Underlying Unclassifiable Inherited Bone Marrow Failure Syndromes With Bone Fragility Fractures
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
250
Start Date
2022-01-10
Completion Date
2028-01
Last Updated
2022-07-01
Healthy Volunteers
Yes
Conditions
Interventions
The whole-exome sequencing
Exome sequencing will be performed at the Division of Hematopoietic Disease Control, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan and will be analyzed at Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Japan.
Locations (1)
, Faculty of Medicine, Sohag University
Sohag, Egypt