Early development of occipital horns in a classical Menkes patient.
Gérard-Blanluet
M
M
Birk-Møller
L
L
Caubel
I
I
Gélot
A
A
Billette de Villemeur
T
T
Horn
N
N
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism; D027682:Cation Transport Proteins / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D000073840:Copper-Transporting ATPases; D004831:Epilepsies, Myoclonic / Q000473:pathology; D005145:Face / Q000002:abnormalities / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008831:Microcephaly / Q000473:pathology; D009154:Mutation; D009777:Occipital Bone / Q000002:abnormalities*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
D027682:Cation Transport Proteins; D012333:RNA, Messenger; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases