No abstract available
Publication types
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Case Reports
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Letter
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Review
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology
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Adenosine Triphosphatases / genetics
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Adenosine Triphosphatases / metabolism
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Cation Transport Proteins / genetics
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Cation Transport Proteins / metabolism
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Child
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Child, Preschool
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Copper-Transporting ATPases
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Epilepsies, Myoclonic / pathology
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Face / abnormalities
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Face / pathology
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Follow-Up Studies
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Humans
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Infant
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Karyotyping
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Male
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Menkes Kinky Hair Syndrome / genetics
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Menkes Kinky Hair Syndrome / metabolism
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Menkes Kinky Hair Syndrome / pathology*
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Microcephaly / pathology
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Mutation
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Occipital Bone / abnormalities*
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Recombinant Fusion Proteins / genetics
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Recombinant Fusion Proteins / metabolism
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Cation Transport Proteins
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RNA, Messenger
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Recombinant Fusion Proteins
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Adenosine Triphosphatases
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ATP7A protein, human
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Copper-Transporting ATPases