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

ABSTRACT:

SUBMITTER: Garg A

PROVIDER: S-EPMC7597435 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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

Garg Abhimanyu A Xing Chao C

American journal of medical genetics. Part A 20140324 5

PMID: 24665001

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