The Advantage of High Throughput Sequencing for the Diagnosis of Child Shwachman-Diamond Syndrome
نویسندگان
چکیده
منابع مشابه
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints...
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ژورنال
عنوان ژورنال: Archives of Clinical and Medical Case Reports
سال: 2019
ISSN: 2575-9655
DOI: 10.26502/acmcr.96550125