Congenital macrothrombocytopenia is a heterogeneous disorder in India
نویسندگان
چکیده
منابع مشابه
Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene.
Congenital thrombocytopenia in childhood and adolescence requires an extensive diagnostic workup to find the underlying reason. We report on a 13-year-old female patient who was incidentally found to have moderate thrombocytopenia which was also diagnosed in her father and brother. Within the microscopic evaluation of a peripheral blood smear macrothrombocytes were found. Immunofluorescence mic...
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Neonatal screening is an essential preventative public health program, and is the standard practice of care world– wide. India is yet to start any publicly funded program despite this having been established in many countries for over 50 years. The purpose of neonatal screening is to reduce morbidity and mortality in the newborn. Detection must have a clear benefit for the baby and be cost effe...
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OBJECTIVES The aims of this study were to identify and characterize familial cases of atrial fibrillation (AF) in our clinical practice and to determine whether AF is genetically heterogeneous. BACKGROUND Atrial fibrillation is not generally regarded as a heritable disorder, yet a genetic locus for familial AF was previously mapped to chromosome 10. METHODS Of 2,610 patients seen in our arr...
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ژورنال
عنوان ژورنال: Haemophilia
سال: 2016
ISSN: 1351-8216
DOI: 10.1111/hae.12917