Pubmed is a searchable database of medical literature and lists journal articles that discuss kabuki syndrome. Kabuki makeup syndrome foi a nomenclatura inicialmente proposta por niikawa, pela semelhanca do facies dos individuos afectados, especialmente dos olhos, com a elaborada maquilhagem dos actores do teatro kabuki. In some people with kabuki syndrome, the cause is unknown. Kabuki syndrome is a rare condition that affects males and females in equal numbers. We detected complex rearrangements involving 2q in two patients with kabukilike features. Ademas, pueden seguir ordenes complejas multidireccionales. Click on the link to view a sample search on this topic. It is characterized by distinctive facial features eversion of the lower lateral eyelid, arched eyebrows with the lateral one. Urgenza nelle malattie rare geneticometaboliche a cura di g. Genedx 207 perry parkway gaithersburg, md 20877 toll free. We detected complex rearrangements involving 2q in two patients with kabuki like features. Tale sindrome e stata scoperta da due medici giapponesi nel 1981. In the majority of cases, ks is due to mutations in the. It is a genetic cause of developmental delay, occurring in about 1 in 32,000 births.
354 691 722 366 691 101 1287 263 186 1542 471 827 1169 1381 333 330 233 107 1504 959 769 921 1037 1466 112 1019 1210 1585 1221 848 598 1638 300 481 822 1278 1064 1215 40 414 662