Associated Papers
Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.
Møller LB et al.
Frontiers in Molecular Neuroscience, 2021
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
Beyens A et al.
Genes, 2019
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P et al.
Metabolic Brain Disease, 2017
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
[Multiple bladder diverticula caused by occipital horn syndrome].
Legros L et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2015
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB et al.
Biochimie, 2009
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
Dagenais SL et al.
American Journal of Human Genetics, 2001
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