Subject
Genetics (clinical),Genetics,General Medicine
Reference24 articles.
1. Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome: two new cases and review of the literature;Beyens;Genes. 12 juill,2019
2. A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype;Bonati;Mol. Genet. Metabol. Rep.,2017
3. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelly;Nat. Genet. janv,1993
4. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients;Christodoulou;Am. J. Med. Genet. 5 mars,1998
5. The mild form of Menkes disease: progress report on the original case;Danks;Am. J. Med. Genet. juill,1988
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