A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

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作者信息

Giuliano Fabienne, Collignon Patrick, Paquis-Flucklinger Véronique, Bardot Jacques, Philip Nicole

出版信息

Am J Med Genet A. 2005 Jan 15;132A(2):222. doi: 10.1002/ajmg.a.30396.

DOI:10.1002/ajmg.a.30396

PMID:15523633

Abstract

摘要

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