First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate

Overview of attention for article published in BMC Medical Genomics, June 2022

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RT @Primary_Immune: One of the most devastating and heart-wrenching of the ~7,000 known rare diseases A novel mutation🧬i…

20 Jun 2022

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First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate https://t.co/KwsK8vBVLV https://t.co/d4Ok4sBtda

19 Jun 2022

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RT @Primary_Immune: One of the most devastating and heart-wrenching of the ~7,000 known rare diseases A novel mutation🧬i…

19 Jun 2022

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RT @Primary_Immune: One of the most devastating and heart-wrenching of the ~7,000 known rare diseases A novel mutation🧬i…

19 Jun 2022

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