[HTML][HTML] Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

M Erdős, K Alapi, I Balogh, G Oroszlán, É Rákóczi… - Experimental …, 2006 - Elsevier
OBJECTIVE: A 5-month-old male infant presenting with recurrent respiratory tract infections,
chronic diarrhea, and failure to thrive was found to be pancytopenic. Bone marrow and x-ray
examinations were consistent with Shwachman-Diamond syndrome (SDS). Genomic DNA
sequencing, restriction fragment analysis, and studies of the mutant proteins were performed
to gain further knowledge on the molecular pathology of SDS. MATERIALS AND METHODS:
Exons 1 to 5 of the SBDS gene were amplified and sequenced. COS-7 cells were …