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Distal arthrogryposis type II D in three generations of a Brazilian family.

作者信息

Pagnan N A, Gollop T R

出版信息

Am J Med Genet. 1987 Mar;26(3):613-9. doi: 10.1002/ajmg.1320260316.

Abstract

We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal contractures. To the best of our knowledge, this family is the second literature report of distal arthrogryposis type II D.

摘要

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