https://t.co/JRsa3sd9Yh La duplicación del fenotipo 17p13.3: el análisis de 21 familias delinea las anomalías en el desarrollo, el comportamiento y el cerebro, y los fenotipos variantes raros
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@Wormie0015 I got a mild version of Marfan Syndrome, instead of FBN1 mutation, I have chromosome 17p13.3 duplication. https://t.co/KBW0EO6KnA CTRL+F and type "Marfan". It's extremely rare sadly, wish I had more info on my condition.
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The duplication 17p13.3 phenotype: Marfanoid habitus https://t.co/KBW0EO6KnA #Marfan
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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abno... http://t.co/svej0CAHa5