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Article

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).

American journal of medical genetics - 26 Feb 1998

Krakowiak P A, Bohnsack J F, Carey J C, Bamshad M

Abstract excerpt

We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected...

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PMID: 9508073
DOI: 10.1002/(sici)1096-8628(19980226)76:1<93::aid-ajmg17>3.0.co;2-k

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