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Achondrogenesis type II
- ... Houston-Harris type) achondrogenesis type IB (Fraccaro type) achondrogenesis type II (Langer-Saldino type) Genetic Testing Registry: Achondrogenesis type ...
- ... Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15; ...
- ... that cause life-threatening skeletal disorders such as achondrogenesis type 1B (described above). As a ... phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. ...