De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. (Q55057832)

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De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
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    De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. (English)

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