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achondrogenesis type II

 

Definition: achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q.

Synonym(s): Langer-Saldino syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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