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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 
    ... article on PubMed Central Reichenberger E, Chen IP. Craniometaphyseal Dysplasia, Autosomal Dominant. 2007 Aug 27 [updated 2020 Jun 11]. In: ... Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ...
    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