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menkes syndrome
- Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky ... seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and ...
- ... laxa, which is considered a mild form of Menkes syndrome (described below). Occipital horn syndrome is characterized by ... 150 mutations in the ATP7A gene that cause Menkes syndrome. Many of these mutations delete part of the ...
- ... the CREBBP gene can cause a condition called Menke-Hennekam syndrome. While this condition shares some features with Rubinstein- ... as intellectual disability and growth delays, individuals with Menke-Hennekam syndrome do not have the facial features and thumb ...
- ... a very rare cause of a condition called Menke-Hennekam syndrome. While this condition shares some features with Rubinstein- ... as intellectual disability and growth delays, individuals with Menke-Hennekam syndrome do not have the facial features and thumb ...
- ... the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels ... PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 Jan-Feb;1(1): ...
- ... Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, ... syndrome: first international consensus statement. Nat Rev Genet. 2018 ...
- ... PITX1 protein. Unlike the mutations that cause Liebenberg syndrome (described above), these genetic ... CR, Park S, Mihala AG, Kingsley DM, Menke DB. Pitx1 broadly associates with limb enhancers and ...
