Add to ORKGSBDS/7q11 gene mutations underlie the congenital Shwachman Diamond syndrome (SDS), characterized by bone marrow failure and high risk of haematological malignancies. In two cases of SDS with bone marrow failure and isolated del(20q) interphase fluorescence in situ hybridization (I-FISH) found no abnormalities in FHIT/3p14.2, IKZF1/7p13, D7S486/7q31, PTEN/10q23.3, WT1/11p13, ATM/11q23, D13S25/13q14, TP53/17p13, NF1/17q11, SMAD2/18q21, RUNX1/21q22. Fluorescence immunophenotype combined with I-FISH found del(20q) in a totipotent haematopoietic stem cell (CD34(+), CD133(+)) and downstream myelocyte (CD33(+), CD14(+), CD13(+)), erythrocyte (Glycophorin A(+)) and lymphocyte lineages (CD19(+), CD20(+), CD3(+), CD7(+)). These findings and clinical ...
Introduction: Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive disease due to mutatio...
Background: An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletio...
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder charac-terized by short stature,...
In Shwachman-Diamond syndrome (SDS), deletion of the long arm of chromosome 20, del(20)(q), often ac...
Shwachman-Diamond syndrome (SDS) is a rare inherited disorder characterized by bone marrow (BM) dysf...
Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized b...
Shwachman-Diamond syndrome (SDS), autosomal recessive bone marrow failure condition, implies a high ...
The most frequent chromosome anomalies acquired in the bone marrow (BM) of patients with Shwachman-D...
Background: Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwac...
Among the Inherited Bone Marrow Failure Syndromes (IBMFS), the Shwachman-Diamond syndrome (SDS) is a...
Introduction: Shwachman Diamond syndrome (SDS) is an autosomal recessive condition that is attribu...
Introduction: Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive disease due to mutatio...
Background: An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletio...
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder charac-terized by short stature,...
In Shwachman-Diamond syndrome (SDS), deletion of the long arm of chromosome 20, del(20)(q), often ac...
Shwachman-Diamond syndrome (SDS) is a rare inherited disorder characterized by bone marrow (BM) dysf...
Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized b...
Shwachman-Diamond syndrome (SDS), autosomal recessive bone marrow failure condition, implies a high ...
The most frequent chromosome anomalies acquired in the bone marrow (BM) of patients with Shwachman-D...
Background: Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwac...
Among the Inherited Bone Marrow Failure Syndromes (IBMFS), the Shwachman-Diamond syndrome (SDS) is a...
Introduction: Shwachman Diamond syndrome (SDS) is an autosomal recessive condition that is attribu...
Introduction: Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive disease due to mutatio...
Background: An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletio...
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder charac-terized by short stature,...