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Results 1 - 2 of 2 for "Achondrogenesis," type IB
  1. Achondrogenesis 
    ... their family. achondrogenesis type IA (Houston-Harris type) achondrogenesis type IB (Fraccaro type) achondrogenesis type II (Langer-Saldino type) ... Testing Registry: Achondrogenesis, type IA Genetic Testing Registry: Achondrogenesis, type IB ... National Organization for Rare Disorders (NORD) ACHONDROGENESIS, ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  2. SLC26A2 gene 
    ... mutations appear to be relatively common causes of achondrogenesis type 1B. One of these mutations deletes a single protein ... 1020_1022delTGT.The SLC26A2 gene mutations that cause achondrogenesis type 1B prevent the production of any functional protein from ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics