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.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 15238919.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Adenosine Triphosphatases
- Cation Transport Proteins
- Menkes Kinky Hair Syndrome
- Mutation, Missense
- Recombinant Fusion Proteins