Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. They may include wedge-shaped calcium deposits at the base of the …

2003年5月9日 · Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders caused by pathogenic variants in the ATP7A, the X-linked …

Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a …

2013年9月4日 · Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, …

Genetic anomalies in the Cu-ATPase encoding ATP7A are associated with a fatal neurological disorder such as Menkes disease (MD), Occipital Horn Syndrome (OHS) which is a mild form …

Occipital horn syndrome, also known as X-linked cutis laxa or Ehlers-Danlos syndrome type IX, is primarily caused by mutations in the ATP7A gene located on the X chromosome. This genetic …

2013年3月5日 · ATP7A is an energy-dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from …

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients …

2021年5月10日 · Twenty-five novel mutations including duplications in the ATP7A gene. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes …

Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency; a lethal form called Menkes disease (MD), leading to early death, and a much …