title: Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
abstract: Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.
authors.affiliation: Department of Pediatrics, Klinikum Neukölln, Berlin, Germany.
authors.forename: Bettina
authors.initials: B
authors.lastname: Borm
authors.forename: Lisbeth Birk
authors.initials: LB
authors.lastname: Møller
authors.forename: Ingrid
authors.initials: I
authors.lastname: Hausser
authors.forename: Michael
authors.initials: M
authors.lastname: Emeis
authors.forename: Kurt
authors.initials: K
authors.lastname: Baerlocher
authors.forename: Nina
authors.initials: N
authors.lastname: Horn
authors.forename: Rainer
authors.initials: R
authors.lastname: Rossi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D003300:Copper / Q000097:blood; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D020125:Mutation, Missense; D011993:Recombinant Fusion Proteins / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases