Results 1 -
4
of
4
for
menkes syndrome
- ... 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 ...
- ... 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 ...
