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Results 1 - 3 of 3 for Craniometaphyseal "dysplasia," autosomal dominant
  1. Craniometaphyseal dysplasia 
    ... CMDR Craniometaphyseal dysplasia, Jackson type Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive Craniometaphyseal ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  2. ANKH gene 
    ... the ANKH gene have been found to cause autosomal dominant craniometaphyseal dysplasia, a condition characterized by thickening of bones in ... article on PubMed Central Reichenberger E, Chen IP. Autosomal Dominant Craniometaphyseal Dysplasia. 2007 Aug 27 [updated 2025 Aug 14]. In: ...
    https://medlineplus.gov/genetics/gene/ankh - Genetics
  3. GJA1 gene 
    ... Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 ... mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8): ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics