Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.

Authors :: McCarthy P
Cotter M
Smith OP
Source :: British journal of haematology [Br J Haematol] 2022 Feb; Vol. 196 (3), pp. e39-e42. Date of Electronic Publication: 2021 Sep 22.
Publication Year :: 2022

Subjects :: Biomarkers
Biopsy
DNA Mutational Analysis
Disease Management
Genetic Association Studies
Genetic Predisposition to Disease
Hematopoietic Stem Cell Transplantation adverse effects
Hematopoietic Stem Cell Transplantation methods
Humans
Infant, Newborn
Male
Radiography
Treatment Outcome
Heterozygote
Mutation, Missense
Phenotype
Shwachman-Diamond Syndrome diagnosis
Shwachman-Diamond Syndrome genetics
Signal Recognition Particle genetics

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