A boy and his uncle both present with neutropenia and cardiomyopathy! Do you know the genetic diagnosis? Pic from nice review : https://t.co/zoSS7jWwQ3 #MedTwitter #Pathtwitter #cardiotwitter #medgentwitter -#hematology #MedEd https://t.co/wsuH3wbCCr
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RT @adamcifu: #diseasesjustlearned Barth Syndrome https://t.co/cFBae23Xza Though this information will probably never help you since, "Fewe…
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#diseasesjustlearned Barth Syndrome https://t.co/cFBae23Xza Though this information will probably never help you since, "Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed."
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A full description of #BarthSyndrome can be found here at the Orphanet Journal of Rare Diseases. http://t.co/I0k8yV8S67